Variant report

Variant	nsv908216
Chromosome Location	chr17:37863015-37879588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr17:37866845-37867075	K562	blood:	n/a	n/a
2	CCNT2	chr17:37879431-37880102	K562	blood:	n/a	n/a
3	CEBPB	chr17:37873031-37873522	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr17:37875030-37875228	Pancreas_OC	pancreas:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
5	CTCF	chr17:37874957-37875154	K562	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
6	CTCF	chr17:37875032-37875213	A549	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
7	CTCF	chr17:37875020-37875170	GM12874	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
8	CTCF	chr17:37875040-37875190	GM12868	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
9	CTCF	chr17:37875020-37875170	K562	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
10	CTCF	chr17:37872080-37872230	NHEK	skin:	n/a	n/a
11	CTCF	chr17:37875020-37875170	HUVEC	blood vessel:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
12	CTCF	chr17:37875020-37875170	MCF-7	breast:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
13	CTCF	chr17:37875100-37875180	Lung_OC	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
14	CTCF	chr17:37875060-37875210	AG10803	skin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
15	CTCF	chr17:37875040-37875190	HPF	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
16	CTCF	chr17:37875000-37875150	HRPEpiC	eye:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
17	CTCF	chr17:37875040-37875190	Hela-S3	cervix:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
18	CTCF	chr17:37874874-37875429	HCT-116	colon:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
19	CTCF	chr17:37875080-37875230	HA-sp	spinal cord:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
20	CTCF	chr17:37874856-37875280	A549	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
21	CTCF	chr17:37875040-37875190	Caco-2	colon:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
22	CTCF	chr17:37875020-37875170	HEK293	kidney:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
23	CTCF	chr17:37875076-37875174	ProgFib	skin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
24	CTCF	chr17:37872120-37872270	NHEK	skin:	n/a	n/a
25	CTCF	chr17:37875080-37875230	GM12866	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
26	CTCF	chr17:37875020-37875170	HL-60	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
27	CTCF	chr17:37874848-37875304	HepG2	liver:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
28	CTCF	chr17:37875006-37875253	HUVEC	blood vessel:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
29	CTCF	chr17:37875020-37875170	WI-38	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
30	CTCF	chr17:37875042-37875232	LNCaP	prostate:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
31	CTCF	chr17:37874980-37875130	BE2_C	brain:	n/a	n/a
32	CTCF	chr17:37875000-37875150	GM12875	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
33	CTCF	chr17:37875047-37875221	Medullo	brain:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
34	CTCF	chr17:37875050-37875217	GM12878	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
35	CTCF	chr17:37874956-37875289	IMR90	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
36	CTCF	chr17:37875040-37875190	HBMEC	blood vessel:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
37	CTCF	chr17:37875020-37875170	HFF-Myc	foreskin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
38	CTCF	chr17:37875040-37875190	HepG2	liver:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
39	CTCF	chr17:37875040-37875190	GM12873	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
40	CTCF	chr17:37875080-37875230	GM06990	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
41	CTCF	chr17:37875080-37875230	NB4	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
42	CTCF	chr17:37875000-37875150	NHEK	skin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
43	CTCF	chr17:37875060-37875210	HFF	foreskin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
44	CTCF	chr17:37875040-37875190	AG10803	skin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
45	CTCF	chr17:37875057-37875200	GM13977	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
46	CTCF	chr17:37874877-37875233	MCF-7	breast:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
47	CTCF	chr17:37875060-37875210	SAEC	small airway:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
48	CTCF	chr17:37874988-37875207	SK-N-SH_RA	brain:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
49	CTCF	chr17:37875000-37875150	NHDF-neo	bronchial:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
50	CTCF	chr17:37875020-37875170	HA-sp	spinal cord:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:37875709-37875759	NH-A	brain:	n/a
2	chr17:37879267-37879317	AG10803	skin:	n/a
3	chr17:37879267-37879317	CMK	blood:	n/a
4	chr17:37875709-37875759	H1-hESC	embryonic stem cell:	embryo
5	chr17:37879267-37879317	K562	blood:	n/a
6	chr17:37875709-37875759	GM12892	blood:	n/a
7	chr17:37879267-37879317	U87	brain:	n/a
8	chr17:37875709-37875759	AoSMC	blood vessel:	n/a
9	chr17:37879267-37879317	ProgFib	skin:	n/a
10	chr17:37879267-37879317	HL-60	blood:	n/a
11	chr17:37879267-37879317	SK-N-MC	brain:	n/a
12	chr17:37879267-37879317	PANC-1	pancreas:	n/a
13	chr17:37875709-37875759	ECC-1	luminal epithelium:	n/a
14	chr17:37875709-37875759	Hela-S3	cervix:	n/a
15	chr17:37875709-37875759	BJ	skin:	n/a
16	chr17:37879267-37879317	SK-N-SH	brain:	n/a
17	chr17:37879267-37879317	NHDF-neo	bronchial:	n/a
18	chr17:37879267-37879317	GM12891	blood:	n/a
19	chr17:37879267-37879317	Hepatocyte	liver:	n/a
20	chr17:37875709-37875759	HAEpiC	amniotic membrane:	n/a
21	chr17:37879267-37879317	AG04449	skin:	fetal
22	chr17:37875709-37875759	NHBE	bronchial:	n/a
23	chr17:37879267-37879317	PrEC	prostate:	n/a
24	chr17:37879267-37879317	HCF	heart:	n/a
25	chr17:37875709-37875759	HRPEpiC	eye:	n/a
26	chr17:37879267-37879317	ovcar-3	ovarian:	n/a
27	chr17:37879267-37879317	RPTEC	kidney:	n/a
28	chr17:37875709-37875759	HL-60	blood:	n/a
29	chr17:37879267-37879317	SK-N-SH_RA	brain:	n/a
30	chr17:37879267-37879317	HCM	heart:	n/a
31	chr17:37879267-37879317	HRPEpiC	eye:	n/a
32	chr17:37875709-37875759	Jurkat	blood:	n/a
33	chr17:37875709-37875759	HRE	kidney:	n/a
34	chr17:37879267-37879317	HUVEC	blood vessel:	n/a
35	chr17:37879267-37879317	AoSMC	blood vessel:	n/a
36	chr17:37879267-37879317	GM12878	blood:	n/a
37	chr17:37875709-37875759	AG09309	skin:	n/a
38	chr17:37875709-37875759	GM19239	blood:	n/a
39	chr17:37875709-37875759	HCT-116	colon:	n/a
40	chr17:37875709-37875759	NHDF-neo	bronchial:	n/a
41	chr17:37875709-37875759	IMR90	lung:	fetal
42	chr17:37875709-37875759	Caco-2	colon:	n/a
43	chr17:37875709-37875759	HCF	heart:	n/a
44	chr17:37875709-37875759	GM12891	blood:	n/a
45	chr17:37875709-37875759	SAEC	small airway:	n/a
46	chr17:37875709-37875759	GM06990	blood:	n/a
47	chr17:37875709-37875759	K562	blood:	n/a
48	chr17:37875709-37875759	A549	lung:	n/a
49	chr17:37879267-37879317	Jurkat	blood:	n/a
50	chr17:37879267-37879317	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37859950..37863403-chr17:37895808..37898808,3	MCF-7	breast:
2	chr17:37860257..37864274-chr17:37871854..37875164,5	MCF-7	breast:
3	chr17:37860742..37863626-chr17:37884816..37888176,3	MCF-7	breast:
4	chr17:37860257..37864274-chr17:37871854..37875164,5	MCF-7	breast:
5	chr17:37867857..37869588-chr17:37870435..37872270,2	K562	blood:
6	chr17:37875233..37878023-chr17:37910337..37912992,2	MCF-7	breast:
7	chr17:37857359..37860774-chr17:37877797..37881019,3	MCF-7	breast:
8	chr17:37821349..37827255-chr17:37878140..37881623,7	K562	blood:
9	chr17:37858390..37860926-chr17:37875652..37877494,2	K562	blood:
10	chr17:37875103..37877735-chr17:37878952..37881487,4	K562	blood:
11	chr17:37803714..37809656-chr17:37878369..37881849,5	K562	blood:
12	chr17:37843168..37845541-chr17:37863729..37866216,2	MCF-7	breast:
13	chr17:37875103..37877735-chr17:37878952..37881487,4	K562	blood:
14	chr17:37869068..37872163-chr17:37881073..37883703,3	K562	blood:
15	chr17:37872892..37874995-chr17:37881128..37883306,2	K562	blood:
16	chr17:37854371..37858847-chr17:37859204..37863861,12	MCF-7	breast:
17	chr17:37807008..37809974-chr17:37878237..37881849,3	K562	blood:
18	chr17:37778246..37778910-chr17:37874656..37875550,3	MCF-7	breast:
19	chr17:37843888..37846797-chr17:37874927..37876468,2	MCF-7	breast:
20	chr17:37760982..37763537-chr17:37878611..37880800,2	K562	blood:
21	chr17:37852050..37854882-chr17:37862447..37865325,2	K562	blood:
22	chr17:37871119..37873027-chr17:37873590..37876087,2	K562	blood:
23	chr17:37860636..37865251-chr17:37890921..37895460,5	MCF-7	breast:
24	chr17:37861723..37863621-chr17:37878570..37880965,2	MCF-7	breast:
25	chr17:37862394..37865054-chr17:37882153..37884156,2	K562	blood:
26	chr17:37870758..37873083-chr17:37874555..37877273,2	K562	blood:
27	chr17:37854757..37859429-chr17:37870382..37874180,6	K562	blood:
28	chr17:37815487..37818092-chr17:37864402..37866827,2	MCF-7	breast:
29	chr17:37867857..37869588-chr17:37870435..37872270,2	K562	blood:
30	chr17:37871866..37874609-chr17:37884182..37887614,4	MCF-7	breast:
31	chr17:37843552..37845628-chr17:37864708..37866273,2	K562	blood:
32	chr17:37775843..37778792-chr17:37877300..37880050,2	K562	blood:
33	chr17:37878383..37881370-chr17:37906332..37908876,2	K562	blood:
34	chr17:37843958..37845642-chr17:37874066..37877258,3	MCF-7	breast:
35	chr17:37856670..37858872-chr17:37874487..37877508,3	MCF-7	breast:
36	chr17:37871119..37873027-chr17:37873590..37876087,2	K562	blood:
37	chr17:37870160..37872163-chr17:37881073..37883081,3	K562	blood:
38	chr17:37858020..37860192-chr17:37861876..37864299,2	K562	blood:
39	chr17:37861753..37864572-chr17:37866139..37867731,2	MCF-7	breast:
40	chr17:37844202..37845987-chr17:37862738..37864585,2	K562	blood:
41	chr17:37864069..37866883-chr17:37884219..37886655,3	MCF-7	breast:
42	chr17:37862305..37864519-chr17:37893058..37894844,2	MCF-7	breast:
43	chr17:37873495..37876430-chr17:37881806..37884578,2	K562	blood:
44	chr17:37874861..37876535-chr17:37884600..37886557,2	K562	blood:
45	chr17:37861753..37864572-chr17:37866139..37867731,2	MCF-7	breast:
46	chr17:37842892..37845868-chr17:37868766..37870557,2	K562	blood:
47	chr17:37872030..37873860-chr17:37878139..37880037,3	K562	blood:
48	chr17:37861008..37863729-chr17:37884662..37888113,4	MCF-7	breast:

Variant related genes	Relation type
MIR4728	TF binding region
ERBB2	TF binding region
MIR4728	CpG island
ERBB2	CpG island
ENSG00000214546	chromatin interactions
ENSG00000141744	chromatin interactions
ENSG00000161395	chromatin interactions
ENSG00000173991	chromatin interactions
ENSG00000131748	chromatin interactions
ENSG00000265178	chromatin interactions
ENSG00000141738	chromatin interactions
ENSG00000141741	chromatin interactions
ENSG00000141736	chromatin interactions

Extended variants
information (count: 705 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4252609	chr17:37863015-37863016	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574151173	chr17:37863038-37863039	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs544496444	chr17:37863109-37863110	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs563357467	chr17:37863164-37863165	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs376786716	chr17:37863199-37863200	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs185387920	chr17:37863200-37863201	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs368864942	chr17:37863205-37863206	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs575250472	chr17:37863214-37863215	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs545970596	chr17:37863220-37863221	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs373097759	chr17:37863231-37863232	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs377542789	chr17:37863250-37863251	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs564064363	chr17:37863251-37863252	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs528118039	chr17:37863253-37863254	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs546886845	chr17:37863262-37863263	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs4252610	chr17:37863268-37863269	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149937802	chr17:37863269-37863270	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs369293607	chr17:37863271-37863272	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs144019910	chr17:37863309-37863310	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs140441229	chr17:37863339-37863340	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs371270269	chr17:37863404-37863405	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs529042839	chr17:37863408-37863409	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs372210663	chr17:37863504-37863505	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs148040998	chr17:37863606-37863607	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs4252611	chr17:37863607-37863608	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs11655866	chr17:37863619-37863620	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs569080560	chr17:37863631-37863632	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs189705575	chr17:37863682-37863683	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs184643346	chr17:37863689-37863690	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs189765170	chr17:37863695-37863696	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs192775785	chr17:37863701-37863702	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs4252612	chr17:37863708-37863709	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142177886	chr17:37863765-37863766	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs34588721	chr17:37863792-37863793	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs574262869	chr17:37863833-37863834	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs538391075	chr17:37863926-37863927	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs556479969	chr17:37863927-37863928	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs578155528	chr17:37863960-37863961	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs184501114	chr17:37863966-37863967	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs189257831	chr17:37863969-37863970	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs572840176	chr17:37863973-37863974	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs201388702	chr17:37864041-37864042	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs540240104	chr17:37864080-37864081	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs373335389	chr17:37864114-37864115	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs181798868	chr17:37864118-37864119	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs561969231	chr17:37864176-37864177	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs146715815	chr17:37864246-37864247	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs186486287	chr17:37864247-37864248	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs189056840	chr17:37864254-37864255	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs372366005	chr17:37864257-37864258	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs562526875	chr17:37864301-37864302	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:154)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	18702822	CNVD
Breast cancer	17938205	CNVD
Breast cancer	20943603	CNVD
Pheochromocytoma	18310300	CNVD
Gastric adenocarcinoma	22014070	CNVD
Breast cancer	20217132	CNVD
Ovarian cancer	20217132	CNVD
Breast cancer	17260090	CNVD
Breast cancer	21633010	CNVD
Breast cancer	18086299	CNVD
Breast cancer	22042366	CNVD
Salivary gland tumor	22240798	CNVD
Non-small cell lung cancer	17317677	CNVD
Cancer	20697084	CNVD
Lung cancer	17626639	CNVD
Breast cancer	18335499	CNVD
Cervical cancer	17311676	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Central neurocytomas	17123091	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	19019769	CNVD
Breast cancer	19767729	CNVD
Invasive breast cancer	19060846	CNVD
Breast cancer	19123950	CNVD
Neuroblastic tumor	20581805	CNVD
Ovarian cancer	18182111	CNVD

Chromatin state (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37857000-37872000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:37857600-37863400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr17:37857800-37863200	Enhancers	Left Ventricle	heart
4	chr17:37858000-37863200	Weak transcription	HUVEC	blood vessel
5	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
6	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
7	chr17:37858200-37863200	Weak transcription	Spleen	Spleen
8	chr17:37858200-37863200	Weak transcription	NHLF	lung
9	chr17:37858200-37863600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:37858200-37864000	Enhancers	Liver	Liver
11	chr17:37858200-37864400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
13	chr17:37858400-37863400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:37858400-37863400	Weak transcription	Fetal Kidney	kidney
15	chr17:37858400-37863600	Genic enhancers	Fetal Intestine Small	intestine
16	chr17:37858400-37879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:37859000-37863400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:37859000-37864000	Genic enhancers	Fetal Muscle Leg	muscle
19	chr17:37859400-37881000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr17:37859600-37863600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:37859800-37864800	Weak transcription	Fetal Brain Female	brain
22	chr17:37861000-37863400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:37861200-37863200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr17:37861200-37863800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:37861200-37864600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr17:37861400-37863200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:37861400-37863400	Active TSS	Rectal Smooth Muscle	rectum
28	chr17:37861400-37863400	Weak transcription	Osteobl	bone
29	chr17:37861400-37883600	Weak transcription	Brain Substantia Nigra	brain
30	chr17:37861600-37863400	Enhancers	Fetal Heart	heart
31	chr17:37861600-37864600	Weak transcription	Colon Smooth Muscle	Colon
32	chr17:37861800-37863200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:37861800-37863200	Weak transcription	Ovary	ovary
34	chr17:37862000-37863200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:37862000-37863200	Enhancers	Brain Anterior Caudate	brain
36	chr17:37862000-37863400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr17:37862000-37865400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:37862200-37863200	Weak transcription	Lung	lung
39	chr17:37862200-37863400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:37862200-37863400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:37862200-37866600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr17:37862200-37877000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:37862400-37863200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:37862400-37863200	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr17:37862400-37863200	Flanking Active TSS	Esophagus	oesophagus
47	chr17:37862400-37863200	Weak transcription	Gastric	stomach
48	chr17:37862400-37863400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr17:37862400-37863400	Enhancers	Brain Hippocampus Middle	brain
50	chr17:37862400-37863600	Genic enhancers	Fetal Lung	lung

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