Variant report

Variant	nsv908218
Chromosome Location	chr17:37866591-37879588
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	chr17:37875100-37875250	AG04450	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
5	CTCF	chr17:37875080-37875230	NHEK	skin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
6	CTCF	chr17:37875040-37875190	HepG2	liver:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
7	CTCF	chr17:37875000-37875150	NHDF-neo	bronchial:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
8	CTCF	chr17:37875060-37875210	AG09319	gingival:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
9	CTCF	chr17:37867503-37867557	GM20000	blood:	n/a	n/a
10	CTCF	chr17:37875065-37875168	SK-N-SH_RA	brain:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
11	CTCF	chr17:37875020-37875170	GM12864	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
12	CTCF	chr17:37875080-37875230	HRE	kidney:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
13	CTCF	chr17:37875040-37875190	HPF	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
14	CTCF	chr17:37872080-37872230	NHEK	skin:	n/a	n/a
15	CTCF	chr17:37875060-37875210	K562	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
16	CTCF	chr17:37875020-37875170	K562	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
17	CTCF	chr17:37875040-37875190	HCPEpiC	choroid plexus:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
18	CTCF	chr17:37875080-37875230	GM06990	blood:	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	chr17:37875060-37875210	AG10803	skin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
21	CTCF	chr17:37875020-37875170	Caco-2	colon:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
22	CTCF	chr17:37875020-37875170	HCT-116	colon:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
23	CTCF	chr17:37874679-37875491	A549	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
24	CTCF	chr17:37875040-37875190	HCFaa	heart:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
25	CTCF	chr17:37875057-37875221	GM10248	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
26	CTCF	chr17:37875080-37875230	AG04450	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
27	CTCF	chr17:37875020-37875170	HAc	cerebellar:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
28	CTCF	chr17:37875020-37875170	HPF	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
29	CTCF	chr17:37875057-37875200	GM13977	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
30	CTCF	chr17:37875020-37875170	HL-60	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
31	CTCF	chr17:37875040-37875190	BE2_C	brain:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
32	CTCF	chr17:37875060-37875210	HUVEC	blood vessel:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
33	CTCF	chr17:37875100-37875250	HVMF	connective:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
34	CTCF	chr17:37874937-37875206	A549	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
35	CTCF	chr17:37875047-37875221	Medullo	brain:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
36	CTCF	chr17:37874874-37875429	HCT-116	colon:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
37	CTCF	chr17:37875080-37875230	HCT-116	colon:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
38	CTCF	chr17:37875000-37875150	NHEK	skin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
39	CTCF	chr17:37875080-37875230	GM12865	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
40	CTCF	chr17:37875060-37875210	SAEC	small airway:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
41	CTCF	chr17:37875020-37875170	WI-38	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
42	CTCF	chr17:37875006-37875253	HUVEC	blood vessel:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
43	CTCF	chr17:37875020-37875170	HA-sp	spinal cord:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
44	CTCF	chr17:37875000-37875150	HCM	heart:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
45	CTCF	chr17:37874856-37875280	A549	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
46	CTCF	chr17:37874961-37875291	K562	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
47	CTCF	chr17:37875053-37875204	Spleen_OC	spleen:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
48	CTCF	chr17:37875059-37875156	GM10266	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
49	CTCF	chr17:37874980-37875130	GM12878	blood:	n/a	n/a
50	CTCF	chr17:37875060-37875210	GM12865	blood:	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	BE2_C	brain:	n/a
2	chr17:37875709-37875759	BE2_C	brain:	n/a
3	chr17:37875709-37875759	HEK293	kidney:	embryo
4	chr17:37879267-37879317	HCF	heart:	n/a
5	chr17:37875709-37875759	NHDF-neo	bronchial:	n/a
6	chr17:37879267-37879317	AG10803	skin:	n/a
7	chr17:37879267-37879317	SAEC	small airway:	n/a
8	chr17:37879267-37879317	ovcar-3	ovarian:	n/a
9	chr17:37875709-37875759	AG04450	lung:	fetal
10	chr17:37879267-37879317	GM12892	blood:	n/a
11	chr17:37879267-37879317	NHDF-neo	bronchial:	n/a
12	chr17:37875709-37875759	HCPEpiC	choroid plexus:	n/a
13	chr17:37875709-37875759	GM12891	blood:	n/a
14	chr17:37879267-37879317	AoSMC	blood vessel:	n/a
15	chr17:37879267-37879317	HCM	heart:	n/a
16	chr17:37875709-37875759	BJ	skin:	n/a
17	chr17:37879267-37879317	HRCEpiC	kidney:	n/a
18	chr17:37875709-37875759	Caco-2	colon:	n/a
19	chr17:37879267-37879317	NH-A	brain:	n/a
20	chr17:37879267-37879317	HNPCEpiC	eye:	n/a
21	chr17:37879267-37879317	NHBE	bronchial:	n/a
22	chr17:37879267-37879317	PrEC	prostate:	n/a
23	chr17:37879267-37879317	HRE	kidney:	n/a
24	chr17:37875709-37875759	SK-N-SH	brain:	n/a
25	chr17:37879267-37879317	Hela-S3	cervix:	n/a
26	chr17:37879267-37879317	HEK293	kidney:	embryo
27	chr17:37879267-37879317	MCF-7	breast:	n/a
28	chr17:37875709-37875759	ProgFib	skin:	n/a
29	chr17:37875709-37875759	HUVEC	blood vessel:	n/a
30	chr17:37875709-37875759	AoSMC	blood vessel:	n/a
31	chr17:37879267-37879317	SK-N-SH	brain:	n/a
32	chr17:37875709-37875759	HRE	kidney:	n/a
33	chr17:37879267-37879317	SKMC	muscle:	n/a
34	chr17:37879267-37879317	HEEpiC	esophagus:	n/a
35	chr17:37879267-37879317	U87	brain:	n/a
36	chr17:37879267-37879317	HIPEpiC	eye:	n/a
37	chr17:37875709-37875759	Hepatocyte	liver:	n/a
38	chr17:37875709-37875759	HMEC	breast:	n/a
39	chr17:37879267-37879317	BJ	skin:	n/a
40	chr17:37879267-37879317	AG04450	lung:	fetal
41	chr17:37875709-37875759	NHBE	bronchial:	n/a
42	chr17:37875709-37875759	HEEpiC	esophagus:	n/a
43	chr17:37875709-37875759	CMK	blood:	n/a
44	chr17:37879267-37879317	GM12878	blood:	n/a
45	chr17:37879267-37879317	RPTEC	kidney:	n/a
46	chr17:37879267-37879317	IMR90	lung:	fetal
47	chr17:37879267-37879317	AG04449	skin:	fetal
48	chr17:37879267-37879317	AG09309	skin:	n/a
49	chr17:37875709-37875759	AG04449	skin:	fetal
50	chr17:37875709-37875759	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr17:37861723..37863621-chr17:37878570..37880965,2	MCF-7	breast:
2	chr17:37871119..37873027-chr17:37873590..37876087,2	K562	blood:
3	chr17:37871866..37874609-chr17:37884182..37887614,4	MCF-7	breast:
4	chr17:37843958..37845642-chr17:37874066..37877258,3	MCF-7	breast:
5	chr17:37867857..37869588-chr17:37870435..37872270,2	K562	blood:
6	chr17:37875103..37877735-chr17:37878952..37881487,4	K562	blood:
7	chr17:37864069..37866883-chr17:37884219..37886655,3	MCF-7	breast:
8	chr17:37861753..37864572-chr17:37866139..37867731,2	MCF-7	breast:
9	chr17:37872892..37874995-chr17:37881128..37883306,2	K562	blood:
10	chr17:37873495..37876430-chr17:37881806..37884578,2	K562	blood:
11	chr17:37871119..37873027-chr17:37873590..37876087,2	K562	blood:
12	chr17:37875103..37877735-chr17:37878952..37881487,4	K562	blood:
13	chr17:37867857..37869588-chr17:37870435..37872270,2	K562	blood:
14	chr17:37872030..37873860-chr17:37878139..37880037,3	K562	blood:
15	chr17:37778246..37778910-chr17:37874656..37875550,3	MCF-7	breast:
16	chr17:37857359..37860774-chr17:37877797..37881019,3	MCF-7	breast:
17	chr17:37803714..37809656-chr17:37878369..37881849,5	K562	blood:
18	chr17:37856670..37858872-chr17:37874487..37877508,3	MCF-7	breast:
19	chr17:37821349..37827255-chr17:37878140..37881623,7	K562	blood:
20	chr17:37875233..37878023-chr17:37910337..37912992,2	MCF-7	breast:
21	chr17:37869068..37872163-chr17:37881073..37883703,3	K562	blood:
22	chr17:37870160..37872163-chr17:37881073..37883081,3	K562	blood:
23	chr17:37843888..37846797-chr17:37874927..37876468,2	MCF-7	breast:
24	chr17:37858390..37860926-chr17:37875652..37877494,2	K562	blood:
25	chr17:37760982..37763537-chr17:37878611..37880800,2	K562	blood:
26	chr17:37870758..37873083-chr17:37874555..37877273,2	K562	blood:
27	chr17:37874861..37876535-chr17:37884600..37886557,2	K562	blood:
28	chr17:37878383..37881370-chr17:37906332..37908876,2	K562	blood:
29	chr17:37815487..37818092-chr17:37864402..37866827,2	MCF-7	breast:
30	chr17:37807008..37809974-chr17:37878237..37881849,3	K562	blood:
31	chr17:37842892..37845868-chr17:37868766..37870557,2	K562	blood:
32	chr17:37854757..37859429-chr17:37870382..37874180,6	K562	blood:
33	chr17:37860257..37864274-chr17:37871854..37875164,5	MCF-7	breast:
34	chr17:37775843..37778792-chr17:37877300..37880050,2	K562	blood:

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

Extended variants
information (count: 542 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113330978	chr17:37866591-37866592	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs548076348	chr17:37866618-37866619	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368210132	chr17:37866625-37866626	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs530186646	chr17:37866628-37866629	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200382130	chr17:37866641-37866642	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149210045	chr17:37866689-37866690	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs4252619	chr17:37866741-37866742	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549491415	chr17:37866783-37866784	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146791861	chr17:37866802-37866803	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs538259430	chr17:37866857-37866858	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553605764	chr17:37866874-37866875	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113712070	chr17:37866953-37866954	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536195044	chr17:37867022-37867023	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376349163	chr17:37867049-37867050	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576187499	chr17:37867063-37867064	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543883515	chr17:37867094-37867095	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2313170	chr17:37867109-37867110	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568763084	chr17:37867112-37867113	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142766150	chr17:37867141-37867142	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187401605	chr17:37867149-37867150	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534221809	chr17:37867169-37867170	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530410580	chr17:37867206-37867207	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs117866580	chr17:37867211-37867212	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4252620	chr17:37867238-37867239	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531044703	chr17:37867257-37867258	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549428236	chr17:37867319-37867320	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571016671	chr17:37867332-37867333	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532650874	chr17:37867342-37867343	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531943014	chr17:37867354-37867355	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4252621	chr17:37867367-37867368	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs4252622	chr17:37867372-37867373	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531748886	chr17:37867390-37867391	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577121666	chr17:37867480-37867481	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371133826	chr17:37867496-37867497	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539944790	chr17:37867517-37867518	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs147376630	chr17:37867537-37867538	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569798305	chr17:37867553-37867554	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117907620	chr17:37867574-37867575	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs4252623	chr17:37867633-37867634	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4252624	chr17:37867647-37867648	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571054439	chr17:37867708-37867709	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541577776	chr17:37867730-37867731	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553399449	chr17:37867735-37867736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574766995	chr17:37867838-37867839	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs184636363	chr17:37867920-37867921	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs542492167	chr17:37868017-37868018	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs200914443	chr17:37868091-37868092	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs150502135	chr17:37868096-37868097	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs531103130	chr17:37868113-37868114	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs375801931	chr17:37868132-37868133	Strong transcription Weak transcription Enhancers	TF binding region	1 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:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37857000-37872000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
3	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
4	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
5	chr17:37858400-37879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:37859400-37881000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr17:37861400-37883600	Weak transcription	Brain Substantia Nigra	brain
8	chr17:37862200-37866600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:37862200-37877000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr17:37862400-37876800	Strong transcription	HepG2	liver
12	chr17:37862400-37877600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:37862400-37878800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
17	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
18	chr17:37862600-37866800	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr17:37862600-37871400	Weak transcription	HSMM	muscle
20	chr17:37862600-37871600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr17:37862800-37866600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr17:37862800-37872000	Weak transcription	NH-A	brain
24	chr17:37862800-37878800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:37862800-37883200	Weak transcription	Small Intestine	intestine
26	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
27	chr17:37863000-37868800	Strong transcription	A549	lung
28	chr17:37863000-37869400	Strong transcription	Adipose Nuclei	Adipose
29	chr17:37863000-37870000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:37863000-37872400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr17:37863000-37873800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:37863000-37876600	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr17:37863000-37877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:37863000-37878800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr17:37863000-37879000	Strong transcription	HSMMtube	muscle
36	chr17:37863000-37879600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:37863000-37885600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:37863200-37867000	Strong transcription	NHLF	lung
39	chr17:37863200-37868800	Strong transcription	Aorta	Aorta
40	chr17:37863200-37869200	Strong transcription	Ovary	ovary
41	chr17:37863200-37869400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:37863200-37876800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:37863200-37879400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr17:37863200-37885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:37863200-37885800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:37863400-37867000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:37863400-37868800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr17:37863400-37869200	Strong transcription	Fetal Kidney	kidney
49	chr17:37863400-37869400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr17:37863400-37869400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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