Variant report

Variant	nsv970090
Chromosome Location	chr6:27100909-27101502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:563)
CpG islands
(count:245)
Chromatin interactive
region (count:179)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:27100449-27102456	K562	blood:	n/a	chr6:27100771-27100779 chr6:27100880-27100892
2	ATF1	chr6:27100215-27101268	K562	blood:	n/a	n/a
3	ATF2	chr6:27099440-27102117	GM12878	blood:	n/a	n/a
4	ATF2	chr6:27099403-27102022	GM12878	blood:	n/a	n/a
5	ATF2	chr6:27100295-27101815	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:27099400-27102439	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr6:27101299-27101951	A549	lung:	n/a	n/a
8	ATF3	chr6:27099561-27101048	A549	lung:	n/a	chr6:27100666-27100679 chr6:27100665-27100678
9	BACH1	chr6:27101272-27102416	K562	blood:	n/a	n/a
10	BATF	chr6:27100738-27101238	GM12878	blood:	n/a	n/a
11	BCL11A	chr6:27101351-27101879	GM12878	blood:	n/a	n/a
12	BCL11A	chr6:27100678-27101315	GM12878	blood:	n/a	n/a
13	BCL3	chr6:27099470-27101951	A549	lung:	n/a	n/a
14	BCL3	chr6:27100576-27102524	K562	blood:	n/a	n/a
15	BCL3	chr6:27101316-27101779	GM12878	blood:	n/a	n/a
16	BCL3	chr6:27099412-27101934	A549	lung:	n/a	n/a
17	BCLAF1	chr6:27099081-27102104	GM12878	blood:	n/a	n/a
18	BCLAF1	chr6:27099378-27103647	K562	blood:	n/a	n/a
19	BCLAF1	chr6:27099398-27101988	GM12878	blood:	n/a	n/a
20	BCLAF1	chr6:27091775-27117112	K562	blood:	n/a	chr6:27098256-27098265 chr6:27096184-27096192 chr6:27116085-27116094
21	BHLHE40	chr6:27100292-27102316	GM12878	blood:	n/a	n/a
22	BHLHE40	chr6:27100161-27101200	K562	blood:	n/a	n/a
23	BRCA1	chr6:27101329-27102335	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr6:27100407-27102456	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr6:27100287-27102033	GM12878	blood:	n/a	n/a
26	CBX3	chr6:27099986-27102432	K562	blood:	n/a	n/a
27	CBX3	chr6:27100284-27101907	K562	blood:	n/a	n/a
28	CCNT2	chr6:27099647-27101879	K562	blood:	n/a	n/a
29	CEBPB	chr6:27099653-27102745	Hela-S3	cervix:	n/a	chr6:27102346-27102357
30	CEBPB	chr6:27100307-27101093	A549	lung:	n/a	n/a
31	CEBPB	chr6:27100211-27102484	HCT-116	colon:	n/a	chr6:27102346-27102357
32	CEBPB	chr6:27100673-27101034	K562	blood:	n/a	n/a
33	CEBPB	chr6:27100317-27100972	GM12878	blood:	n/a	n/a
34	CEBPB	chr6:27101475-27102719	A549	lung:	n/a	chr6:27102346-27102357
35	CEBPB	chr6:27101413-27102489	A549	lung:	n/a	chr6:27102346-27102357
36	CEBPB	chr6:27099486-27103320	K562	blood:	n/a	chr6:27102346-27102357
37	CEBPB	chr6:27101113-27102712	HCT-116	colon:	n/a	chr6:27102346-27102357
38	CEBPB	chr6:27099444-27101757	GM12878	blood:	n/a	n/a
39	CEBPD	chr6:27098743-27102984	K562	blood:	n/a	chr6:27102347-27102358
40	CEBPD	chr6:27099626-27102642	K562	blood:	n/a	chr6:27102347-27102358
41	CEBPD	chr6:27100667-27101167	HepG2	liver:	n/a	n/a
42	CHD1	chr6:27099141-27102382	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr6:27098369-27102339	GM12878	blood:	n/a	n/a
44	CHD2	chr6:27100341-27101085	HepG2	liver:	n/a	n/a
45	CHD2	chr6:27099598-27102378	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr6:27099434-27101924	GM12878	blood:	n/a	n/a
47	CHD2	chr6:27099609-27102411	K562	blood:	n/a	n/a
48	CHD2	chr6:27099538-27101962	Hela-S3	cervix:	n/a	n/a
49	CREB1	chr6:27100075-27102003	GM12878	blood:	n/a	n/a
50	CREB1	chr6:27099477-27102416	K562	blood:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27101279-27101329	NB4	blood:	n/a
2	chr6:27101279-27101329	NB4	blood:	n/a
3	chr6:27101279-27101329	SK-N-SH	brain:	n/a
4	chr6:27101120-27101170	MCF10A-Er-Src	breast:	n/a
5	chr6:27100860-27100910	GM12892	blood:	n/a
6	chr6:27101120-27101170	PFSK-1	brain:	n/a
7	chr6:27101120-27101170	Hepatocyte	liver:	n/a
8	chr6:27101279-27101329	GM06990	blood:	n/a
9	chr6:27101279-27101329	HRCEpiC	kidney:	n/a
10	chr6:27101050-27101100	BJ	skin:	n/a
11	chr6:27101120-27101170	PANC-1	pancreas:	n/a
12	chr6:27101050-27101100	K562	blood:	n/a
13	chr6:27101120-27101170	HRCEpiC	kidney:	n/a
14	chr6:27100860-27100910	Hela-S3	cervix:	n/a
15	chr6:27101279-27101329	HEK293	kidney:	embryo
16	chr6:27101279-27101329	PrEC	prostate:	n/a
17	chr6:27101050-27101100	HEK293	kidney:	embryo
18	chr6:27101120-27101170	H1-hESC	embryonic stem cell:	embryo
19	chr6:27100860-27100910	SKMC	muscle:	n/a
20	chr6:27101120-27101170	NT2-D1	testis:	n/a
21	chr6:27100860-27100910	SAEC	small airway:	n/a
22	chr6:27100860-27100910	RPTEC	kidney:	n/a
23	chr6:27100860-27100910	PANC-1	pancreas:	n/a
24	chr6:27101050-27101100	GM06990	blood:	n/a
25	chr6:27101279-27101329	NT2-D1	testis:	n/a
26	chr6:27101120-27101170	CMK	blood:	n/a
27	chr6:27101050-27101100	MCF10A-Er-Src	breast:	n/a
28	chr6:27101050-27101100	AG09309	skin:	n/a
29	chr6:27101279-27101329	Hela-S3	cervix:	n/a
30	chr6:27101120-27101170	AG09319	gingival:	n/a
31	chr6:27100860-27100910	AG09309	skin:	n/a
32	chr6:27101279-27101329	AG09309	skin:	n/a
33	chr6:27101120-27101170	NH-A	brain:	n/a
34	chr6:27101050-27101100	HUVEC	blood vessel:	n/a
35	chr6:27101279-27101329	HIPEpiC	eye:	n/a
36	chr6:27101120-27101170	ProgFib	skin:	n/a
37	chr6:27101050-27101100	NHDF-neo	bronchial:	n/a
38	chr6:27101050-27101100	AoSMC	blood vessel:	n/a
39	chr6:27101120-27101170	Caco-2	colon:	n/a
40	chr6:27101120-27101170	HCPEpiC	choroid plexus:	n/a
41	chr6:27101279-27101329	HUVEC	blood vessel:	n/a
42	chr6:27101050-27101100	Hela-S3	cervix:	n/a
43	chr6:27101120-27101170	RPTEC	kidney:	n/a
44	chr6:27101279-27101329	A549	lung:	n/a
45	chr6:27101050-27101100	HAEpiC	amniotic membrane:	n/a
46	chr6:27101279-27101329	ECC-1	luminal epithelium:	n/a
47	chr6:27101279-27101329	T-47D	breast:	n/a
48	chr6:27101120-27101170	HMEC	breast:	n/a
49	chr6:27101279-27101329	HCPEpiC	choroid plexus:	n/a
50	chr6:27101279-27101329	ovcar-3	ovarian:	n/a

(count:179 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr13:111367272..111367934-chr6:27100539..27101234,2	Hela-S3	cervix:
2	chr6:26195729..26208268-chr6:27092660..27105612,50	K562	blood:
3	chr21:28217151..28217866-chr6:27100184..27101098,2	Hela-S3	cervix:
4	chr6:26594524..26600977-chr6:27096034..27104390,19	K562	blood:
5	chr6:26020661..26022972-chr6:27100866..27103084,2	K562	blood:
6	chr6:27099249..27101314-chr7:77165197..77167718,2	MCF-7	breast:
7	chr6:26030558..26034410-chr6:27100755..27103505,3	MCF-7	breast:
8	chr6:27096288..27105112-chr6:27855525..27865082,32	K562	blood:
9	chr1:24740862..24742870-chr6:27100800..27102384,2	K562	blood:
10	chr6:26196890..26209578-chr6:27096615..27108451,46	K562	blood:
11	chr1:149859280..149859938-chr6:27100746..27101386,2	Hela-S3	cervix:
12	chr11:31530854..31531457-chr6:27100673..27101491,3	Hela-S3	cervix:
13	chr5:10249652..10251055-chr6:27099838..27101365,4	Hela-S3	cervix:
14	chr6:26595623..26599966-chr6:27100615..27102925,4	MCF-7	breast:
15	chr6:27101462..27102201-chr7:5569731..5570295,2	Hela-S3	cervix:
16	chr6:27100486..27101282-chr6:27860497..27861330,3	Hela-S3	cervix:
17	chr1:28972893..28976291-chr6:27098725..27101221,3	K562	blood:
18	chr6:26537451..26540482-chr6:27099233..27102260,3	K562	blood:
19	chr6:27100613..27102138-chr6:27831418..27834082,2	K562	blood:
20	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
21	chr6:26214809..26219329-chr6:27098036..27102129,6	MCF-7	breast:
22	chr6:27101340..27102281-chr6:27114106..27115389,3	MCF-7	breast:
23	chr13:103248662..103249433-chr6:27100334..27101111,2	Hela-S3	cervix:
24	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
25	chr6:26119863..26128842-chr6:27096583..27102911,26	K562	blood:
26	chr6:27100852..27101558-chr6:27839278..27840055,2	NB4	blood:
27	chr6:26989531..26991995-chr6:27101331..27103055,2	K562	blood:
28	chr6:26284169..26287182-chr6:27098843..27102282,9	MCF-7	breast:
29	chr17:57918318..57921683-chr6:27099154..27102412,4	MCF-7	breast:
30	chr17:76732595..76733364-chr6:27100643..27101277,2	Hela-S3	cervix:
31	chr6:26231234..26236589-chr6:27099738..27104932,8	K562	blood:
32	chr6:27099838..27102834-chr9:131451247..131454017,2	K562	blood:
33	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:
34	chr6:26210558..26220469-chr6:27093552..27103796,28	K562	blood:
35	chr3:135968947..135969500-chr6:27100458..27101422,2	HCT-116	colon:
36	chr2:242625924..242626816-chr6:27100504..27101274,2	Hela-S3	cervix:
37	chr6:26203350..26205090-chr6:27099738..27102062,2	MCF-7	breast:
38	chr6:26187507..26190261-chr6:27099153..27102365,6	MCF-7	breast:
39	chr6:27100755..27102737-chr6:30749085..30751315,2	K562	blood:
40	chr6:26327534..26329302-chr6:27101295..27103250,2	K562	blood:
41	chr13:52026671..52027516-chr6:27100678..27101257,2	NB4	blood:
42	chr11:4115441..4116351-chr6:27100431..27101188,2	Hela-S3	cervix:
43	chr11:119204819..119205592-chr6:27100248..27101177,2	Hela-S3	cervix:
44	chr6:26181582..26185463-chr6:27101423..27104248,3	MCF-7	breast:
45	chr15:34502043..34502681-chr6:27100763..27101327,2	Hela-S3	cervix:
46	chr4:775576..776177-chr6:27100717..27101262,2	Hela-S3	cervix:
47	chr6:26025697..26028574-chr6:27100456..27102922,3	MCF-7	breast:
48	chr11:62608546..62609641-chr6:27100072..27101167,4	NB4	blood:
49	chr6:27051029..27052811-chr6:27100588..27103504,2	K562	blood:
50	chr17:29421865..29422413-chr6:27100316..27101225,2	HCT-116	colon:

No data

Variant related genes	Relation type
HIST1H2BJ	TF binding region
HIST1H2BJ	CpG island
ENSG00000184348	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000238648	chromatin interactions
ENSG00000163584	chromatin interactions
ENSG00000169908	chromatin interactions
ENSG00000083799	chromatin interactions
ENSG00000124575	chromatin interactions
ENSG00000158406	chromatin interactions
ENSG00000197061	chromatin interactions
ENSG00000249592	chromatin interactions
ENSG00000198374	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000271937	chromatin interactions
ENSG00000187239	chromatin interactions
ENSG00000216331	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000262468	chromatin interactions
ENSG00000114054	chromatin interactions
ENSG00000054611	chromatin interactions
ENSG00000111640	chromatin interactions
ENSG00000113369	chromatin interactions
ENSG00000170619	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000162377	chromatin interactions
ENSG00000232112	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000112812	chromatin interactions
ENSG00000188987	chromatin interactions
ENSG00000164951	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000082212	chromatin interactions
ENSG00000197914	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000271071	chromatin interactions
ENSG00000119523	chromatin interactions
ENSG00000224843	chromatin interactions
ENSG00000260729	chromatin interactions
ENSG00000219738	chromatin interactions
ENSG00000148950	chromatin interactions
ENSG00000119335	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000240541	chromatin interactions
ENSG00000185130	chromatin interactions
ENSG00000182572	chromatin interactions
ENSG00000109911	chromatin interactions
ENSG00000238610	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000179152	chromatin interactions
ENSG00000140264	chromatin interactions
ENSG00000070010	chromatin interactions
ENSG00000154734	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000179262	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000256316	chromatin interactions
ENSG00000102796	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000116761	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000184897	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000185947	chromatin interactions
ENSG00000152683	chromatin interactions
ENSG00000001461	chromatin interactions
ENSG00000256018	chromatin interactions
ENSG00000103495	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000087460	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000146109	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000168393	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000068137	chromatin interactions
ENSG00000124608	chromatin interactions
ENSG00000197697	chromatin interactions
ENSG00000242125	chromatin interactions
ENSG00000196966	chromatin interactions
ENSG00000219770	chromatin interactions
ENSG00000127947	chromatin interactions
ENSG00000260708	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000115548	chromatin interactions
ENSG00000134152	chromatin interactions
ENSG00000182611	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000213614	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000173456	chromatin interactions
ENSG00000157456	chromatin interactions
ENSG00000243977	chromatin interactions
ENSG00000197818	chromatin interactions
ENSG00000217275	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000238621	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000218690	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000184357	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000083544	chromatin interactions
ENSG00000106803	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000093009	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000185238	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000124275	chromatin interactions
ENSG00000115421	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000188002	chromatin interactions
ENSG00000217646	chromatin interactions
ENSG00000162694	chromatin interactions
ENSG00000228022	chromatin interactions
ENSG00000264947	chromatin interactions
ENSG00000147586	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000167807	chromatin interactions
ENSG00000197238	chromatin interactions
ENSG00000162695	chromatin interactions
ENSG00000267673	chromatin interactions
ENSG00000108270	chromatin interactions
ENSG00000082898	chromatin interactions
ENSG00000124529	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000182952	chromatin interactions
ENSG00000233822	chromatin interactions
ENSG00000134900	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000164051	chromatin interactions
ENSG00000215301	chromatin interactions
ENSG00000196747	chromatin interactions
ENSG00000167325	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000119403	chromatin interactions
ENSG00000217862	chromatin interactions
ENSG00000228223	chromatin interactions
ENSG00000152601	chromatin interactions
ENSG00000260339	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000139218	chromatin interactions
ENSG00000001460	chromatin interactions
ENSG00000108669	chromatin interactions
ENSG00000168242	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000199289	chromatin interactions
ENSG00000197459	chromatin interactions
ENSG00000196374	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000218281	chromatin interactions
ENSG00000175567	chromatin interactions
ENSG00000196712	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541862528	chr6:27100909-27100910	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	151 gene(s)	Overlapped CNVs	n/a
2	rs140678978	chr6:27100916-27100917	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
3	rs373032856	chr6:27100917-27100918	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
4	rs143036813	chr6:27100922-27100923	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
5	rs376267515	chr6:27100923-27100924	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
6	rs115976308	chr6:27100925-27100926	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
7	rs139431925	chr6:27100931-27100932	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
8	rs376867899	chr6:27100940-27100941	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
9	rs201638092	chr6:27100944-27100945	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
10	rs150064024	chr6:27100955-27100956	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
11	rs557667586	chr6:27100957-27100958	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
12	rs201426448	chr6:27100963-27100964	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
13	rs368672815	chr6:27100968-27100969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
14	rs199602474	chr6:27100980-27100981	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	153 gene(s)	Overlapped CNVs	n/a
15	rs577496343	chr6:27100985-27100986	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	152 gene(s)	Overlapped CNVs	n/a
16	rs536871691	chr6:27101016-27101017	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	150 gene(s)	Overlapped CNVs	n/a
17	rs374586128	chr6:27101028-27101029	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	150 gene(s)	Overlapped CNVs	n/a
18	rs372313450	chr6:27101036-27101037	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	151 gene(s)	Overlapped CNVs	n/a
19	rs556704983	chr6:27101046-27101047	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	148 gene(s)	Overlapped CNVs	n/a
20	rs145295412	chr6:27101051-27101052	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	148 gene(s)	Overlapped CNVs	n/a
21	rs55867104	chr6:27101054-27101055	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	148 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200630776	chr6:27101055-27101056	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	148 gene(s)	Overlapped CNVs	n/a
23	rs559397552	chr6:27101057-27101058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	148 gene(s)	Overlapped CNVs	n/a
24	rs572792421	chr6:27101066-27101067	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	148 gene(s)	Overlapped CNVs	n/a
25	rs544998858	chr6:27101084-27101085	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	148 gene(s)	Overlapped CNVs	n/a
26	rs375603006	chr6:27101105-27101106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	146 gene(s)	Overlapped CNVs	n/a
27	rs369863195	chr6:27101106-27101107	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	146 gene(s)	Overlapped CNVs	n/a
28	rs565599616	chr6:27101129-27101130	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	145 gene(s)	Overlapped CNVs	n/a
29	rs144023288	chr6:27101132-27101133	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	144 gene(s)	Overlapped CNVs	n/a
30	rs146463878	chr6:27101138-27101139	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	144 gene(s)	Overlapped CNVs	n/a
31	rs531195029	chr6:27101139-27101140	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	144 gene(s)	Overlapped CNVs	n/a
32	rs551203941	chr6:27101177-27101178	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	137 gene(s)	Overlapped CNVs	n/a
33	rs561275841	chr6:27101195-27101196	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	134 gene(s)	Overlapped CNVs	n/a
34	rs200143938	chr6:27101196-27101197	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	134 gene(s)	Overlapped CNVs	n/a
35	rs373781762	chr6:27101206-27101207	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	134 gene(s)	Overlapped CNVs	n/a
36	rs371042126	chr6:27101223-27101224	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	134 gene(s)	Overlapped CNVs	n/a
37	rs546816510	chr6:27101229-27101230	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	133 gene(s)	Overlapped CNVs	n/a
38	rs566938457	chr6:27101240-27101241	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	133 gene(s)	Overlapped CNVs	n/a
39	rs367814674	chr6:27101244-27101245	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	133 gene(s)	Overlapped CNVs	n/a
40	rs145653853	chr6:27101253-27101254	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	129 gene(s)	Overlapped CNVs	n/a
41	rs191790137	chr6:27101262-27101263	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	125 gene(s)	Overlapped CNVs	n/a
42	rs376008923	chr6:27101265-27101266	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	124 gene(s)	Overlapped CNVs	n/a
43	rs41269247	chr6:27101267-27101268	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	124 gene(s)	Overlapped CNVs	n/a
44	rs536908966	chr6:27101272-27101273	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	124 gene(s)	Overlapped CNVs	n/a
45	rs182464700	chr6:27101304-27101305	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	119 gene(s)	Overlapped CNVs	n/a
46	rs367701505	chr6:27101313-27101314	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	118 gene(s)	Overlapped CNVs	n/a
47	rs530499923	chr6:27101315-27101316	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	117 gene(s)	Overlapped CNVs	n/a
48	rs371919796	chr6:27101325-27101326	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	117 gene(s)	Overlapped CNVs	n/a
49	rs41269249	chr6:27101327-27101328	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	117 gene(s)	Overlapped CNVs	n/a
50	rs148908698	chr6:27101359-27101360	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	111 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27098000-27102200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27098200-27101800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:27098400-27101600	Active TSS	GM12878-XiMat	blood
4	chr6:27098400-27102400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:27098400-27102400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:27098400-27102800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:27098600-27101000	Active TSS	HMEC	breast
8	chr6:27098600-27102000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:27098600-27102200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:27098600-27102400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr6:27098600-27102400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:27098800-27101600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:27098800-27101800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr6:27098800-27101800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:27098800-27102000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:27098800-27102000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:27098800-27102200	Active TSS	Brain Germinal Matrix	brain
18	chr6:27098800-27102400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:27098800-27102400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:27098800-27102400	Active TSS	Fetal Kidney	kidney
21	chr6:27098800-27102400	Active TSS	NHLF	lung
22	chr6:27098800-27102800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:27098800-27102800	Active TSS	A549	lung
24	chr6:27098800-27104600	Active TSS	K562	blood
25	chr6:27099000-27101000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:27099000-27101000	Active TSS	Muscle Satellite Cultured Cells	--
27	chr6:27099000-27101200	Active TSS	Fetal Brain Male	brain
28	chr6:27099000-27101400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:27099000-27101600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr6:27099000-27101600	Active TSS	Fetal Intestine Large	intestine
31	chr6:27099000-27101600	Active TSS	Psoas Muscle	Psoas
32	chr6:27099000-27101600	Active TSS	HSMMtube	muscle
33	chr6:27099000-27101800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:27099000-27101800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:27099000-27102000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:27099000-27102000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:27099000-27102000	Active TSS	Right Ventricle	heart
38	chr6:27099000-27102200	Active TSS	NHDF-Ad	bronchial
39	chr6:27099000-27102400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr6:27099000-27102400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:27099000-27102400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr6:27099200-27101000	Active TSS	Primary hematopoietic stem cells	blood
43	chr6:27099200-27101200	Active TSS	Fetal Stomach	stomach
44	chr6:27099200-27101200	Active TSS	Ovary	ovary
45	chr6:27099200-27101200	Active TSS	HSMM	muscle
46	chr6:27099200-27101400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:27099200-27101400	Active TSS	NH-A	brain
48	chr6:27099200-27101400	Active TSS	NHEK	skin
49	chr6:27099200-27101600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr6:27099200-27101600	Active TSS	Fetal Heart	heart

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