Variant report

Variant	nsv969356
Chromosome Location	chr6:26199899-26204393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:664)
CpG islands
(count:367)
Chromatin interactive
region (count:97)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:26200290-26200821	K562	blood:	n/a	n/a
2	ARID3A	chr6:26203675-26203705	K562	blood:	n/a	n/a
3	ARID3A	chr6:26199362-26199910	HepG2	liver:	n/a	n/a
4	ATF1	chr6:26199459-26200457	K562	blood:	n/a	n/a
5	ATF2	chr6:26198496-26200608	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:26204246-26206866	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr6:26201619-26202088	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr6:26198463-26200547	GM12878	blood:	n/a	n/a
9	ATF2	chr6:26199254-26200630	GM12878	blood:	n/a	n/a
10	ATF2	chr6:26204305-26205904	GM12878	blood:	n/a	n/a
11	ATF2	chr6:26204195-26206732	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr6:26204270-26206741	GM12878	blood:	n/a	n/a
13	ATF2	chr6:26194955-26200949	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr6:26203491-26203609	K562	blood:	n/a	n/a
15	BACH1	chr6:26201546-26201920	K562	blood:	n/a	n/a
16	BATF	chr6:26199684-26200128	GM12878	blood:	n/a	n/a
17	BCL3	chr6:26204366-26206366	A549	lung:	n/a	chr6:26204683-26204696
18	BCLAF1	chr6:26198316-26200518	GM12878	blood:	n/a	n/a
19	BCLAF1	chr6:26192611-26200894	K562	blood:	n/a	n/a
20	BCLAF1	chr6:26201050-26207393	K562	blood:	n/a	chr6:26201585-26201594 chr6:26204683-26204696
21	BCLAF1	chr6:26191244-26200903	K562	blood:	n/a	n/a
22	BCLAF1	chr6:26198223-26200649	GM12878	blood:	n/a	n/a
23	BHLHE40	chr6:26199316-26200002	GM12878	blood:	n/a	n/a
24	BHLHE40	chr6:26204190-26205304	K562	blood:	n/a	n/a
25	BHLHE40	chr6:26199319-26200552	K562	blood:	n/a	n/a
26	BRCA1	chr6:26199311-26199908	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr6:26199217-26200383	K562	blood:	n/a	n/a
28	CBX3	chr6:26199290-26200075	K562	blood:	n/a	n/a
29	CBX3	chr6:26204268-26205346	K562	blood:	n/a	n/a
30	CBX3	chr6:26204337-26205584	K562	blood:	n/a	n/a
31	CCNT2	chr6:26203741-26203859	K562	blood:	n/a	n/a
32	CCNT2	chr6:26203156-26203326	K562	blood:	n/a	n/a
33	CCNT2	chr6:26202465-26202656	K562	blood:	n/a	n/a
34	CCNT2	chr6:26204197-26205236	K562	blood:	n/a	n/a
35	CCNT2	chr6:26199149-26200187	K562	blood:	n/a	n/a
36	CCNT2	chr6:26200441-26200764	K562	blood:	n/a	n/a
37	CEBPB	chr6:26200213-26200629	K562	blood:	n/a	n/a
38	CEBPB	chr6:26199262-26199937	K562	blood:	n/a	chr6:26199583-26199591
39	CEBPB	chr6:26199031-26200132	K562	blood:	n/a	chr6:26199583-26199591
40	CEBPB	chr6:26201038-26201390	K562	blood:	n/a	chr6:26201206-26201217
41	CEBPB	chr6:26198501-26200443	GM12878	blood:	n/a	chr6:26199583-26199591
42	CEBPB	chr6:26199119-26200020	HCT-116	colon:	n/a	chr6:26199583-26199591
43	CEBPB	chr6:26200323-26200673	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr6:26199307-26199928	HepG2	liver:	n/a	chr6:26199583-26199591
45	CEBPB	chr6:26201161-26201369	HepG2	liver:	n/a	chr6:26201206-26201217
46	CEBPB	chr6:26201174-26201247	Hela-S3	cervix:	n/a	chr6:26201206-26201217
47	CEBPB	chr6:26199270-26200072	Hela-S3	cervix:	n/a	chr6:26199583-26199591
48	CEBPB	chr6:26201052-26201366	H1-hESC	embryonic stem cell:	n/a	chr6:26201206-26201217
49	CEBPB	chr6:26204269-26206600	K562	blood:	n/a	n/a
50	CEBPB	chr6:26199277-26199914	MCF-7	breast:	n/a	chr6:26199583-26199591

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26200045-26200095	HCM	heart:	n/a
2	chr6:26200045-26200095	HCM	heart:	n/a
3	chr6:26204333-26204383	AoSMC	blood vessel:	n/a
4	chr6:26204333-26204383	PANC-1	pancreas:	n/a
5	chr6:26200365-26200415	ProgFib	skin:	n/a
6	chr6:26200008-26200058	H1-hESC	embryonic stem cell:	embryo
7	chr6:26200045-26200095	CMK	blood:	n/a
8	chr6:26200045-26200095	HMEC	breast:	n/a
9	chr6:26200365-26200415	Hela-S3	cervix:	n/a
10	chr6:26200008-26200058	NH-A	brain:	n/a
11	chr6:26200365-26200415	AG10803	skin:	n/a
12	chr6:26200365-26200415	PFSK-1	brain:	n/a
13	chr6:26200365-26200415	T-47D	breast:	n/a
14	chr6:26200008-26200058	BE2_C	brain:	n/a
15	chr6:26200045-26200095	AG04450	lung:	fetal
16	chr6:26200008-26200058	AG09319	gingival:	n/a
17	chr6:26200008-26200058	HEK293	kidney:	embryo
18	chr6:26204333-26204383	Hela-S3	cervix:	n/a
19	chr6:26200045-26200095	SAEC	small airway:	n/a
20	chr6:26202675-26202725	GM06990	blood:	n/a
21	chr6:26200045-26200095	PANC-1	pancreas:	n/a
22	chr6:26200365-26200415	LNCaP	prostate:	n/a
23	chr6:26200174-26200224	AG09319	gingival:	n/a
24	chr6:26200045-26200095	NHBE	bronchial:	n/a
25	chr6:26200365-26200415	NT2-D1	testis:	n/a
26	chr6:26200365-26200415	HNPCEpiC	eye:	n/a
27	chr6:26200008-26200058	HRCEpiC	kidney:	n/a
28	chr6:26200045-26200095	Hepatocyte	liver:	n/a
29	chr6:26200045-26200095	PrEC	prostate:	n/a
30	chr6:26200174-26200224	SKMC	muscle:	n/a
31	chr6:26204333-26204383	MCF10A-Er-Src	breast:	n/a
32	chr6:26200008-26200058	GM06990	blood:	n/a
33	chr6:26200045-26200095	A549	lung:	n/a
34	chr6:26200045-26200095	RPTEC	kidney:	n/a
35	chr6:26204333-26204383	HEK293	kidney:	embryo
36	chr6:26200365-26200415	BJ	skin:	n/a
37	chr6:26202675-26202725	HCPEpiC	choroid plexus:	n/a
38	chr6:26202675-26202725	AG04449	skin:	fetal
39	chr6:26200365-26200415	AoSMC	blood vessel:	n/a
40	chr6:26200174-26200224	PFSK-1	brain:	n/a
41	chr6:26200008-26200058	LNCaP	prostate:	n/a
42	chr6:26200174-26200224	A549	lung:	n/a
43	chr6:26200045-26200095	BJ	skin:	n/a
44	chr6:26202675-26202725	SK-N-MC	brain:	n/a
45	chr6:26200365-26200415	K562	blood:	n/a
46	chr6:26202675-26202725	Jurkat	blood:	n/a
47	chr6:26200008-26200058	AG04449	skin:	fetal
48	chr6:26200008-26200058	PrEC	prostate:	n/a
49	chr6:26204333-26204383	HCPEpiC	choroid plexus:	n/a
50	chr6:26204333-26204383	HCM	heart:	n/a

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:26203350..26205090-chr6:27099738..27102062,2	MCF-7	breast:
2	chr6:26203034..26206484-chr6:27789284..27793104,6	MCF-7	breast:
3	chr6:26201657..26204430-chr6:27803737..27806295,2	K562	blood:
4	chr6:26203687..26207464-chr6:26521178..26524047,5	K562	blood:
5	chr1:153505459..153506316-chr6:26199169..26200064,2	Hela-S3	cervix:
6	chr11:62608869..62609474-chr6:26199895..26200466,2	Hela-S3	cervix:
7	chr6:26201927..26205994-chr6:27859683..27862837,3	K562	blood:
8	chr2:10952393..10953142-chr6:26199873..26200745,2	Hela-S3	cervix:
9	chr6:26196890..26209578-chr6:27096615..27108451,46	K562	blood:
10	chr1:169073988..169075864-chr6:26199270..26200811,2	MCF-7	breast:
11	chr6:26195729..26208268-chr6:27092660..27105612,50	K562	blood:
12	chr17:41463769..41466376-chr6:26204076..26206322,2	K562	blood:
13	chr19:19773987..19774730-chr6:26199521..26200292,2	Hela-S3	cervix:
14	chr6:26198976..26200690-chr8:144396916..144399356,2	MCF-7	breast:
15	chr6:26195849..26201222-chr6:27858647..27864324,7	K562	blood:
16	chr6:26044090..26046416-chr6:26198004..26201095,3	MCF-7	breast:
17	chr21:43784816..43787637-chr6:26203618..26206285,2	MCF-7	breast:
18	chr6:3157349..3159256-chr6:26198220..26201219,2	K562	blood:
19	chr1:25573431..25574212-chr6:26204345..26205221,2	Hela-S3	cervix:
20	chr20:52824540..52826280-chr6:26204006..26206221,2	MCF-7	breast:
21	chr6:26203843..26208171-chr6:27113293..27116172,4	MCF-7	breast:
22	chr15:78832364..78832906-chr6:26199079..26199951,2	NB4	blood:
23	chr6:26030021..26034897-chr6:26196138..26201230,10	MCF-7	breast:
24	chr6:26200001..26200839-chr7:35076809..35077567,2	Hela-S3	cervix:
25	chr17:59477149..59479351-chr6:26199135..26202043,2	MCF-7	breast:
26	chr6:26199830..26202146-chr6:26537922..26540846,2	MCF-7	breast:
27	chr17:60966442..60968338-chr6:26199786..26201613,2	MCF-7	breast:
28	chr4:41217852..41218468-chr6:26200103..26200767,2	Hela-S3	cervix:
29	chr6:26203418..26208290-chr6:27773529..27778557,7	MCF-7	breast:
30	chr6:26026421..26028789-chr6:26203336..26205903,2	MCF-7	breast:
31	chr20:43976860..43977457-chr6:26199521..26200409,2	Hela-S3	cervix:
32	chr6:26200995..26208208-chr6:27098278..27102268,10	MCF-7	breast:
33	chr17:63051178..63053985-chr6:26202995..26205801,2	MCF-7	breast:
34	chr19:13261047..13261585-chr6:26199496..26200267,2	Hela-S3	cervix:
35	chr6:26203154..26204718-chr6:26537605..26540398,2	K562	blood:
36	chr6:26196862..26203126-chr6:27774221..27779033,8	MCF-7	breast:
37	chr6:26016695..26019436-chr6:26198057..26199976,2	MCF-7	breast:
38	chr6:26158344..26159047-chr6:26199394..26200119,2	NB4	blood:
39	chr11:67055725..67056438-chr6:26199156..26199993,2	NB4	blood:
40	chr6:26199481..26200204-chr6:27114324..27114900,2	NB4	blood:
41	chr17:39845714..39848067-chr6:26197980..26200504,2	MCF-7	breast:
42	chr12:54674206..54674730-chr6:26200514..26201138,2	Hela-S3	cervix:
43	chr6:17582130..17584573-chr6:26197697..26200325,2	MCF-7	breast:
44	chr6:26203848..26208105-chr6:27113189..27116345,6	MCF-7	breast:
45	chr6:26196234..26202173-chr6:27109710..27116918,20	K562	blood:
46	chr6:26200533..26202173-chr6:36952474..36954550,2	K562	blood:
47	chr6:26198554..26201743-chr6:27781165..27784293,4	MCF-7	breast:
48	chr17:36412759..36413334-chr6:26199517..26200071,2	Hela-S3	cervix:
49	chr2:238394029..238396506-chr6:26203344..26206529,3	MCF-7	breast:
50	chr6:26019231..26022068-chr6:26204049..26206272,3	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H3D	TF binding region
HIST1H4E	TF binding region
ENSG00000217275	TF binding region
HIST1H2AD	TF binding region
HIST1H3D	CpG island
HIST1H4E	CpG island
ENSG00000217275	CpG island
HIST1H2AD	CpG island
ENSG00000137267	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000041357	chromatin interactions
ENSG00000124610	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000238279	chromatin interactions
ENSG00000182952	chromatin interactions
ENSG00000197238	chromatin interactions
ENSG00000105726	chromatin interactions
ENSG00000166401	chromatin interactions
ENSG00000269176	chromatin interactions
ENSG00000196532	chromatin interactions
ENSG00000124145	chromatin interactions
ENSG00000196747	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000124529	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000179151	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000113318	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000233822	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000234816	chromatin interactions
ENSG00000120063	chromatin interactions
ENSG00000184428	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000160182	chromatin interactions
ENSG00000134186	chromatin interactions
ENSG00000115648	chromatin interactions
ENSG00000231925	chromatin interactions
ENSG00000196374	chromatin interactions
ENSG00000218359	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000104915	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000182611	chromatin interactions
ENSG00000137198	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000104361	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000117616	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000185130	chromatin interactions
ENSG00000228223	chromatin interactions
ENSG00000160888	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000263660	chromatin interactions
ENSG00000135486	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000217862	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000143870	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000228716	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000155115	chromatin interactions
ENSG00000198339	chromatin interactions
ENSG00000019186	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000143153	chromatin interactions
ENSG00000174093	chromatin interactions
ENSG00000185475	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000199289	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000101310	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34961555	chr6:26199903-26199904	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	65 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200231907	chr6:26199910-26199911	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	64 gene(s)	Overlapped CNVs	n/a
3	rs576787074	chr6:26199912-26199913	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	64 gene(s)	Overlapped CNVs	n/a
4	rs144634856	chr6:26199918-26199919	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	64 gene(s)	Overlapped CNVs	n/a
5	rs202168610	chr6:26199924-26199925	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	64 gene(s)	Overlapped CNVs	n/a
6	rs372379812	chr6:26199933-26199934	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	64 gene(s)	Overlapped CNVs	n/a
7	rs374321154	chr6:26199961-26199962	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	62 gene(s)	Overlapped CNVs	n/a
8	rs201280849	chr6:26199963-26199964	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	62 gene(s)	Overlapped CNVs	n/a
9	rs367933132	chr6:26199978-26199979	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	61 gene(s)	Overlapped CNVs	n/a
10	rs145858402	chr6:26199987-26199988	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	61 gene(s)	Overlapped CNVs	n/a
11	rs201386010	chr6:26199993-26199994	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	61 gene(s)	Overlapped CNVs	n/a
12	rs149014137	chr6:26199999-26200000	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	58 gene(s)	Overlapped CNVs	n/a
13	rs371628950	chr6:26200013-26200014	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
14	rs143761580	chr6:26200024-26200025	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	55 gene(s)	Overlapped CNVs	n/a
15	rs374656318	chr6:26200026-26200027	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	55 gene(s)	Overlapped CNVs	n/a
16	rs541409175	chr6:26200032-26200033	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	55 gene(s)	Overlapped CNVs	n/a
17	rs541006586	chr6:26200038-26200039	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	55 gene(s)	Overlapped CNVs	n/a
18	rs151100683	chr6:26200043-26200044	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	55 gene(s)	Overlapped CNVs	n/a
19	rs141955675	chr6:26200050-26200051	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	55 gene(s)	Overlapped CNVs	n/a
20	rs138137995	chr6:26200059-26200060	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	55 gene(s)	Overlapped CNVs	n/a
21	rs421153	chr6:26200080-26200081	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
22	rs1059486	chr6:26200083-26200084	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	51 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200430242	chr6:26200087-26200088	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
24	rs199603482	chr6:26200095-26200096	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
25	rs150095875	chr6:26200098-26200099	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
26	rs77481736	chr6:26200105-26200106	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
27	rs369121629	chr6:26200110-26200111	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
28	rs546943590	chr6:26200113-26200114	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
29	rs371545300	chr6:26200119-26200120	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
30	rs563912649	chr6:26200124-26200125	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
31	rs138643316	chr6:26200134-26200135	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
32	rs200684560	chr6:26200149-26200150	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
33	rs149335585	chr6:26200164-26200165	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
34	rs188659201	chr6:26200175-26200176	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
35	rs200681962	chr6:26200186-26200187	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
36	rs149541847	chr6:26200225-26200226	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
37	rs544277610	chr6:26200236-26200237	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
38	rs16891397	chr6:26200256-26200257	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	49 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs535667538	chr6:26200260-26200261	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
40	rs181413826	chr6:26200268-26200269	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	47 gene(s)	Overlapped CNVs	n/a
41	rs534723543	chr6:26200282-26200283	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	47 gene(s)	Overlapped CNVs	n/a
42	rs111862300	chr6:26200298-26200299	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
43	rs144091552	chr6:26200320-26200321	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
44	rs558153821	chr6:26200360-26200361	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
45	rs148666247	chr6:26200365-26200366	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
46	rs577150306	chr6:26200372-26200373	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
47	rs375227327	chr6:26200386-26200387	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
48	rs576228841	chr6:26200402-26200403	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
49	rs369595138	chr6:26200403-26200404	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
50	rs561652470	chr6:26200421-26200422	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Multiple myeloma	17550852	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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	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
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Autism	22495309	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD
Autism	20808228	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26194200-26200600	Active TSS	GM12878-XiMat	blood
2	chr6:26194800-26201000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr6:26195000-26200400	Active TSS	Aorta	Aorta
4	chr6:26195000-26200400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:26195000-26200600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:26195000-26200800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:26195000-26200800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:26195000-26200800	Active TSS	NHDF-Ad	bronchial
9	chr6:26195200-26200000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr6:26195200-26200000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr6:26195200-26200000	Active TSS	NHLF	lung
12	chr6:26195200-26200600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:26195200-26200600	Active TSS	Brain Angular Gyrus	brain
14	chr6:26195200-26200800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:26195200-26201000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:26195200-26201400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr6:26195400-26200000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:26195400-26200600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:26195400-26200800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr6:26195400-26200800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:26195400-26200800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:26195400-26200800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:26195400-26200800	Active TSS	Hela-S3	cervix
24	chr6:26195600-26200600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:26195600-26200800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:26195600-26201000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr6:26195600-26201600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:26195800-26200600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:26196000-26201400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:26196200-26200400	Active TSS	HSMMtube	muscle
31	chr6:26196800-26200000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:26196800-26200000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:26196800-26200200	Active TSS	Fetal Intestine Large	intestine
34	chr6:26196800-26200800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:26197000-26200000	Active TSS	Brain Hippocampus Middle	brain
36	chr6:26197000-26200200	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr6:26197000-26200200	Active TSS	Brain Germinal Matrix	brain
38	chr6:26197000-26200200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:26197000-26200400	Active TSS	Colon Smooth Muscle	Colon
40	chr6:26197200-26200200	Active TSS	Fetal Intestine Small	intestine
41	chr6:26197200-26200200	Active TSS	Right Ventricle	heart
42	chr6:26197200-26200600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:26197200-26200600	Active TSS	Fetal Stomach	stomach
44	chr6:26197200-26200800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:26197200-26200800	Active TSS	Brain Cingulate Gyrus	brain
46	chr6:26197200-26200800	Active TSS	Fetal Brain Male	brain
47	chr6:26197200-26201000	Active TSS	Fetal Thymus	thymus
48	chr6:26197400-26200000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:26197400-26200000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:26197400-26200200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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