Variant report

Variant	nsv965698
Chromosome Location	chr6:27099698-27100316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:556)
CpG islands
(count:183)
Chromatin interactive
region (count:100)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:556 , 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	chr6:27099534-27100020	K562	blood:	n/a	n/a
2	ATF1	chr6:27099604-27099891	K562	blood:	n/a	n/a
3	ATF1	chr6:27100215-27101268	K562	blood:	n/a	n/a
4	ATF2	chr6:27099403-27102022	GM12878	blood:	n/a	n/a
5	ATF2	chr6:27099400-27102439	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:27099440-27102117	GM12878	blood:	n/a	n/a
7	ATF2	chr6:27100295-27101815	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr6:27099510-27099927	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr6:27099561-27101048	A549	lung:	n/a	chr6:27100666-27100679 chr6:27100665-27100678
10	BACH1	chr6:27099552-27099898	K562	blood:	n/a	n/a
11	BATF	chr6:27100060-27100626	GM12878	blood:	n/a	n/a
12	BCL11A	chr6:27100031-27100578	GM12878	blood:	n/a	n/a
13	BCL3	chr6:27099470-27101951	A549	lung:	n/a	n/a
14	BCL3	chr6:27099412-27101934	A549	lung:	n/a	n/a
15	BCLAF1	chr6:27091775-27117112	K562	blood:	n/a	chr6:27098256-27098265 chr6:27096184-27096192 chr6:27116085-27116094
16	BCLAF1	chr6:27099378-27103647	K562	blood:	n/a	n/a
17	BCLAF1	chr6:27099398-27101988	GM12878	blood:	n/a	n/a
18	BCLAF1	chr6:27099081-27102104	GM12878	blood:	n/a	n/a
19	BHLHE40	chr6:27100161-27101200	K562	blood:	n/a	n/a
20	BHLHE40	chr6:27100292-27102316	GM12878	blood:	n/a	n/a
21	BRCA1	chr6:27100287-27102033	GM12878	blood:	n/a	n/a
22	BRCA1	chr6:27099571-27099989	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr6:27099986-27102432	K562	blood:	n/a	n/a
24	CBX3	chr6:27100284-27101907	K562	blood:	n/a	n/a
25	CCNT2	chr6:27099647-27101879	K562	blood:	n/a	n/a
26	CEBPB	chr6:27099486-27103320	K562	blood:	n/a	chr6:27102346-27102357
27	CEBPB	chr6:27099444-27101757	GM12878	blood:	n/a	n/a
28	CEBPB	chr6:27100307-27101093	A549	lung:	n/a	n/a
29	CEBPB	chr6:27100211-27102484	HCT-116	colon:	n/a	chr6:27102346-27102357
30	CEBPB	chr6:27099653-27102745	Hela-S3	cervix:	n/a	chr6:27102346-27102357
31	CEBPD	chr6:27099626-27102642	K562	blood:	n/a	chr6:27102347-27102358
32	CEBPD	chr6:27100025-27100605	HepG2	liver:	n/a	n/a
33	CEBPD	chr6:27098743-27102984	K562	blood:	n/a	chr6:27102347-27102358
34	CHD1	chr6:27098369-27102339	GM12878	blood:	n/a	n/a
35	CHD1	chr6:27099141-27102382	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr6:27099538-27101962	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr6:27099598-27102378	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr6:27099434-27101924	GM12878	blood:	n/a	n/a
39	CHD2	chr6:27099609-27102411	K562	blood:	n/a	n/a
40	CREB1	chr6:27100233-27102109	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr6:27099407-27102494	K562	blood:	n/a	n/a
42	CREB1	chr6:27099163-27102104	GM12878	blood:	n/a	n/a
43	CREB1	chr6:27099477-27102416	K562	blood:	n/a	n/a
44	CREB1	chr6:27099512-27100048	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr6:27100275-27101302	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr6:27099494-27100066	GM12878	blood:	n/a	n/a
47	CREB1	chr6:27099629-27099941	A549	lung:	n/a	n/a
48	CREB1	chr6:27099615-27099946	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr6:27099526-27102074	HepG2	liver:	n/a	n/a
50	CREB1	chr6:27100272-27100564	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27100115-27100165	GM06990	blood:	n/a
2	chr6:27099719-27099769	CMK	blood:	n/a
3	chr6:27100115-27100165	LNCaP	prostate:	n/a
4	chr6:27100115-27100165	AoSMC	blood vessel:	n/a
5	chr6:27099813-27099863	LNCaP	prostate:	n/a
6	chr6:27099719-27099769	AG04449	skin:	fetal
7	chr6:27099719-27099769	HUVEC	blood vessel:	n/a
8	chr6:27099813-27099863	HCPEpiC	choroid plexus:	n/a
9	chr6:27100115-27100165	HMEC	breast:	n/a
10	chr6:27100115-27100165	HIPEpiC	eye:	n/a
11	chr6:27100115-27100165	Hela-S3	cervix:	n/a
12	chr6:27099813-27099863	PFSK-1	brain:	n/a
13	chr6:27099719-27099769	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:27099813-27099863	H1-hESC	embryonic stem cell:	embryo
15	chr6:27099813-27099863	GM12892	blood:	n/a
16	chr6:27099719-27099769	BJ	skin:	n/a
17	chr6:27100115-27100165	ProgFib	skin:	n/a
18	chr6:27099719-27099769	PANC-1	pancreas:	n/a
19	chr6:27100115-27100165	SK-N-SH	brain:	n/a
20	chr6:27100115-27100165	NB4	blood:	n/a
21	chr6:27099719-27099769	HCPEpiC	choroid plexus:	n/a
22	chr6:27100115-27100165	CMK	blood:	n/a
23	chr6:27100115-27100165	NHBE	bronchial:	n/a
24	chr6:27099719-27099769	HCT-116	colon:	n/a
25	chr6:27099813-27099863	PrEC	prostate:	n/a
26	chr6:27099813-27099863	Hela-S3	cervix:	n/a
27	chr6:27099719-27099769	SK-N-SH_RA	brain:	n/a
28	chr6:27099813-27099863	K562	blood:	n/a
29	chr6:27099719-27099769	AG04450	lung:	fetal
30	chr6:27100115-27100165	AG04449	skin:	fetal
31	chr6:27100115-27100165	AG09319	gingival:	n/a
32	chr6:27099813-27099863	AG09309	skin:	n/a
33	chr6:27099719-27099769	HNPCEpiC	eye:	n/a
34	chr6:27099813-27099863	HCF	heart:	n/a
35	chr6:27099813-27099863	RPTEC	kidney:	n/a
36	chr6:27099813-27099863	HCM	heart:	n/a
37	chr6:27099813-27099863	CMK	blood:	n/a
38	chr6:27100115-27100165	HCT-116	colon:	n/a
39	chr6:27099813-27099863	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:27099813-27099863	MCF10A-Er-Src	breast:	n/a
41	chr6:27099719-27099769	U87	brain:	n/a
42	chr6:27099719-27099769	SAEC	small airway:	n/a
43	chr6:27099719-27099769	Hela-S3	cervix:	n/a
44	chr6:27100115-27100165	SK-N-SH_RA	brain:	n/a
45	chr6:27100115-27100165	H1-hESC	embryonic stem cell:	embryo
46	chr6:27099813-27099863	BE2_C	brain:	n/a
47	chr6:27099813-27099863	HIPEpiC	eye:	n/a
48	chr6:27100115-27100165	SAEC	small airway:	n/a
49	chr6:27100115-27100165	HPAEpiC	pulmonary alveolar:	n/a
50	chr6:27099813-27099863	SKMC	muscle:	n/a

(count:100 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:26283553..26288411-chr6:27099109..27103890,9	K562	blood:
2	chr6:27099838..27102834-chr9:131451247..131454017,2	K562	blood:
3	chr6:26213328..26219374-chr6:27098401..27104203,12	MCF-7	breast:
4	chr6:26023233..26029617-chr6:27098032..27102736,8	MCF-7	breast:
5	chr22:18111598..18112592-chr6:27099893..27100597,2	Hela-S3	cervix:
6	chr6:27100092..27100635-chr7:100797745..100798310,2	Hela-S3	cervix:
7	chr6:26195729..26208268-chr6:27092660..27105612,50	K562	blood:
8	chr6:26155265..26160650-chr6:27098824..27104648,17	MCF-7	breast:
9	chr17:25620650..25621972-chr6:27100246..27101250,3	Hela-S3	cervix:
10	chr11:119204819..119205592-chr6:27100248..27101177,2	Hela-S3	cervix:
11	chr6:27100040..27100895-chr8:124054161..124054735,2	Hela-S3	cervix:
12	chr6:26031624..26033996-chr6:27097636..27100221,2	MCF-7	breast:
13	chr6:26156157..26159561-chr6:27098059..27103137,9	MCF-7	breast:
14	chr6:27097573..27099800-chr6:27264464..27267307,2	K562	blood:
15	chr6:27099529..27101818-chr6:27857109..27860986,3	MCF-7	breast:
16	chr6:26269718..26276565-chr6:27099393..27105112,10	MCF-7	breast:
17	chr12:53399840..53400448-chr6:27100159..27100684,2	Hela-S3	cervix:
18	chr6:26197296..26200583-chr6:27100054..27103203,5	MCF-7	breast:
19	chr6:27098876..27101009-chr6:27528408..27531042,2	K562	blood:
20	chr6:27099249..27101314-chr7:77165197..77167718,2	MCF-7	breast:
21	chr6:26026115..26036040-chr6:27097153..27104835,26	K562	blood:
22	chr6:26986141..26989315-chr6:27099693..27102722,3	K562	blood:
23	chr6:26196890..26209578-chr6:27096615..27108451,46	K562	blood:
24	chr6:26233448..26235462-chr6:27099272..27101626,2	MCF-7	breast:
25	chr6:26155271..26161648-chr6:27095163..27104437,21	K562	blood:
26	chr17:8076669..8077251-chr6:27100056..27100570,2	HCT-116	colon:
27	chr1:153961971..153964744-chr6:27100182..27102088,2	K562	blood:
28	chr6:26187257..26192079-chr6:27098954..27103250,7	MCF-7	breast:
29	chr6:26187687..26190163-chr6:27098059..27101507,5	K562	blood:
30	chr22:19466508..19469861-chr6:27098397..27102298,3	K562	blood:
31	chr6:27099957..27100785-chr8:42396740..42397448,2	Hela-S3	cervix:
32	chr19:1260529..1261284-chr6:27099971..27100802,2	Hela-S3	cervix:
33	chr6:26593362..26600987-chr6:27097692..27106488,18	K562	blood:
34	chr6:26594524..26600977-chr6:27096034..27104390,19	K562	blood:
35	chr2:61763860..61764848-chr6:27100156..27100980,3	Hela-S3	cervix:
36	chr6:26187507..26190261-chr6:27099153..27102365,6	MCF-7	breast:
37	chr6:26196435..26200575-chr6:27099094..27104350,6	MCF-7	breast:
38	chr6:26215032..26220721-chr6:27098305..27106549,21	K562	blood:
39	chr6:27100161..27102247-chr6:27781053..27784459,3	MCF-7	breast:
40	chr6:27098188..27105257-chr6:27800590..27808222,20	K562	blood:
41	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
42	chr6:26119863..26128842-chr6:27096583..27102911,26	K562	blood:
43	chr11:62608546..62609641-chr6:27100072..27101167,4	NB4	blood:
44	chr17:57918318..57921683-chr6:27099154..27102412,4	MCF-7	breast:
45	chr3:64006479..64009154-chr6:27099911..27101593,2	MCF-7	breast:
46	chr15:59396643..59397820-chr6:27100194..27101399,3	Hela-S3	cervix:
47	chr6:26119257..26128074-chr6:27097161..27104707,27	K562	blood:
48	chr6:26155271..26160589-chr6:27100238..27104946,9	K562	blood:
49	chr3:170586359..170588667-chr6:27099127..27101405,2	K562	blood:
50	chr6:27098237..27102845-chr6:27835694..27840254,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2AG-4	chr6:27098967-27099731	l_3147_NR_026775

No data

Variant related genes	Relation type
HIST1H2AG	TF binding region
HIST1H2AG	CpG island
ENSG00000197061	chromatin interactions
ENSG00000175567	chromatin interactions
ENSG00000171174	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000256316	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000112812	chromatin interactions
ENSG00000124575	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000196712	chromatin interactions
ENSG00000184357	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000146109	chromatin interactions
ENSG00000168242	chromatin interactions
ENSG00000196966	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000256018	chromatin interactions
ENSG00000228223	chromatin interactions
ENSG00000185130	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000076382	chromatin interactions
ENSG00000063046	chromatin interactions
ENSG00000233822	chromatin interactions
ENSG00000261465	chromatin interactions
ENSG00000216331	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000156787	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000238621	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000224843	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000168575	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000167186	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000136986	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000070010	chromatin interactions
ENSG00000093009	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000227543	chromatin interactions
ENSG00000218690	chromatin interactions
ENSG00000127947	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000196747	chromatin interactions
ENSG00000219738	chromatin interactions
ENSG00000197238	chromatin interactions
ENSG00000154734	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000182952	chromatin interactions
ENSG00000199289	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000157456	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000158406	chromatin interactions
ENSG00000132603	chromatin interactions
ENSG00000182572	chromatin interactions
ENSG00000124529	chromatin interactions
ENSG00000106367	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000217275	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000099968	chromatin interactions
ENSG00000119335	chromatin interactions
ENSG00000182611	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000163584	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000196374	chromatin interactions
ENSG00000115091	chromatin interactions
ENSG00000082898	chromatin interactions
ENSG00000010704	chromatin interactions
ENSG00000158019	chromatin interactions
ENSG00000187239	chromatin interactions
ENSG00000173456	chromatin interactions
ENSG00000217862	chromatin interactions
ENSG00000238610	chromatin interactions
ENSG00000149541	chromatin interactions
ENSG00000218281	chromatin interactions
ENSG00000176209	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000188987	chromatin interactions
ENSG00000213380	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000152683	chromatin interactions
ENSG00000197914	chromatin interactions
ENSG00000203813	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562760586	chr6:27099699-27099700	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	59 gene(s)	Overlapped CNVs	n/a
2	rs531568911	chr6:27099701-27099702	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	59 gene(s)	Overlapped CNVs	n/a
3	rs73384380	chr6:27099734-27099735	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	60 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs568083437	chr6:27099760-27099761	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	61 gene(s)	Overlapped CNVs	n/a
5	rs533849532	chr6:27099767-27099768	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	61 gene(s)	Overlapped CNVs	n/a
6	rs547086362	chr6:27099806-27099807	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	62 gene(s)	Overlapped CNVs	n/a
7	rs111418834	chr6:27099813-27099814	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	62 gene(s)	Overlapped CNVs	n/a
8	rs539038014	chr6:27099871-27099872	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
9	rs556474782	chr6:27099882-27099883	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
10	rs139838078	chr6:27099884-27099885	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
11	rs187300284	chr6:27099927-27099928	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	70 gene(s)	Overlapped CNVs	n/a
12	rs79871161	chr6:27099941-27099942	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	70 gene(s)	Overlapped CNVs	n/a
13	rs543921320	chr6:27099942-27099943	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	70 gene(s)	Overlapped CNVs	n/a
14	rs144409947	chr6:27099945-27099946	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	70 gene(s)	Overlapped CNVs	n/a
15	rs572460754	chr6:27099977-27099978	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	75 gene(s)	Overlapped CNVs	n/a
16	rs541472185	chr6:27100003-27100004	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	75 gene(s)	Overlapped CNVs	n/a
17	rs73739594	chr6:27100012-27100013	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	75 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191339299	chr6:27100018-27100019	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	75 gene(s)	Overlapped CNVs	n/a
19	rs184669831	chr6:27100021-27100022	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	75 gene(s)	Overlapped CNVs	n/a
20	rs188738516	chr6:27100026-27100027	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	75 gene(s)	Overlapped CNVs	n/a
21	rs531607420	chr6:27100071-27100072	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	80 gene(s)	Overlapped CNVs	n/a
22	rs558878549	chr6:27100072-27100073	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	81 gene(s)	Overlapped CNVs	n/a
23	rs561880760	chr6:27100087-27100088	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	81 gene(s)	Overlapped CNVs	n/a
24	rs41269245	chr6:27100096-27100097	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	82 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536939260	chr6:27100125-27100126	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	84 gene(s)	Overlapped CNVs	n/a
26	rs367881404	chr6:27100138-27100139	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	84 gene(s)	Overlapped CNVs	n/a
27	rs201706170	chr6:27100146-27100147	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	86 gene(s)	Overlapped CNVs	n/a
28	rs570198216	chr6:27100151-27100152	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	87 gene(s)	Overlapped CNVs	n/a
29	rs539076165	chr6:27100152-27100153	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	87 gene(s)	Overlapped CNVs	n/a
30	rs541707112	chr6:27100161-27100162	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	89 gene(s)	Overlapped CNVs	n/a
31	rs549338976	chr6:27100167-27100168	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	89 gene(s)	Overlapped CNVs	n/a
32	rs368534636	chr6:27100170-27100171	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	89 gene(s)	Overlapped CNVs	n/a
33	rs372796717	chr6:27100175-27100176	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	89 gene(s)	Overlapped CNVs	n/a
34	rs144900182	chr6:27100176-27100177	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	89 gene(s)	Overlapped CNVs	n/a
35	rs115254614	chr6:27100183-27100184	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	90 gene(s)	Overlapped CNVs	n/a
36	rs2272811	chr6:27100191-27100192	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	91 gene(s)	Overlapped CNVs	n/a
37	rs145874703	chr6:27100218-27100219	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	91 gene(s)	Overlapped CNVs	n/a
38	rs114646640	chr6:27100222-27100223	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	92 gene(s)	Overlapped CNVs	n/a
39	rs116395770	chr6:27100252-27100253	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	98 gene(s)	Overlapped CNVs	n/a
40	rs369739205	chr6:27100293-27100294	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	100 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:182 , 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	chr6:27098400-27100000	Active TSS	Fetal Thymus	thymus
4	chr6:27098400-27100600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:27098400-27101600	Active TSS	GM12878-XiMat	blood
6	chr6:27098400-27102400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:27098400-27102400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:27098400-27102800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:27098600-27101000	Active TSS	HMEC	breast
10	chr6:27098600-27102000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:27098600-27102200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:27098600-27102400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr6:27098600-27102400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:27098800-27100000	Active TSS	Adipose Nuclei	Adipose
15	chr6:27098800-27100000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr6:27098800-27100000	Active TSS	Fetal Brain Female	brain
17	chr6:27098800-27100000	Active TSS	Fetal Muscle Leg	muscle
18	chr6:27098800-27100000	Active TSS	Right Atrium	heart
19	chr6:27098800-27100200	Active TSS	Brain Anterior Caudate	brain
20	chr6:27098800-27101600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:27098800-27101800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:27098800-27101800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:27098800-27102000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:27098800-27102000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:27098800-27102200	Active TSS	Brain Germinal Matrix	brain
26	chr6:27098800-27102400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr6:27098800-27102400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:27098800-27102400	Active TSS	Fetal Kidney	kidney
29	chr6:27098800-27102400	Active TSS	NHLF	lung
30	chr6:27098800-27102800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:27098800-27102800	Active TSS	A549	lung
32	chr6:27098800-27104600	Active TSS	K562	blood
33	chr6:27099000-27099800	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr6:27099000-27099800	Active TSS	Fetal Muscle Trunk	muscle
35	chr6:27099000-27099800	Active TSS	Placenta	Placenta
36	chr6:27099000-27099800	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr6:27099000-27100000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr6:27099000-27100000	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr6:27099000-27100000	Active TSS	Brain Hippocampus Middle	brain
40	chr6:27099000-27100000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:27099000-27100000	Active TSS	Stomach Smooth Muscle	stomach
42	chr6:27099000-27100200	Active TSS	Aorta	Aorta
43	chr6:27099000-27100800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:27099000-27100800	Active TSS	Colonic Mucosa	Colon
45	chr6:27099000-27100800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:27099000-27101000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:27099000-27101000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr6:27099000-27101200	Active TSS	Fetal Brain Male	brain
49	chr6:27099000-27101400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:27099000-27101600	Active TSS	Brain Inferior Temporal Lobe	brain

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