Variant report

Variant	nsv965864
Chromosome Location	chr20:23762784-23784103
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	ATF1	chr20:23781355-23781508	K562	blood:	n/a	n/a
2	CEBPB	chr20:23779809-23779920	HepG2	liver:	n/a	chr20:23779841-23779854
3	CTCF	chr20:23763120-23763270	Hela-S3	cervix:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
4	CTCF	chr20:23779900-23780050	HRPEpiC	eye:	n/a	chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
5	CTCF	chr20:23779920-23780070	NHDF-neo	bronchial:	n/a	chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
6	CTCF	chr20:23763034-23763366	K562	blood:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
7	CTCF	chr20:23779801-23780482	A549	lung:	n/a	chr20:23780275-23780296 chr20:23780274-23780290 chr20:23780320-23780329 chr20:23780273-23780291 chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
8	CTCF	chr20:23779960-23780110	Hela-S3	cervix:	n/a	chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
9	CTCF	chr20:23763074-23763516	H1-hESC	embryonic stem cell:	n/a	chr20:23763450-23763471 chr20:23763448-23763466 chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210 chr20:23763449-23763465
10	CTCF	chr20:23763120-23763270	HMEC	breast:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
11	CTCF	chr20:23763120-23763270	AoAF	blood vessel:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
12	CTCF	chr20:23779900-23780050	HAc	cerebellar:	n/a	chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
13	CTCF	chr20:23762860-23763010	HFF	foreskin:	n/a	n/a
14	CTCF	chr20:23779915-23780381	A549	lung:	n/a	chr20:23780275-23780296 chr20:23780274-23780290 chr20:23780320-23780329 chr20:23780273-23780291 chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
15	CTCF	chr20:23779880-23780030	HL-60	blood:	n/a	n/a
16	CTCF	chr20:23779881-23780348	GM12892	blood:	n/a	chr20:23780275-23780296 chr20:23780274-23780290 chr20:23780320-23780329 chr20:23780273-23780291 chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
17	CTCF	chr20:23779900-23780050	GM12868	blood:	n/a	chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
18	CTCF	chr20:23763090-23763322	Pancreas_OC	pancreas:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
19	CTCF	chr20:23762780-23762930	HL-60	blood:	n/a	n/a
20	CTCF	chr20:23763020-23763170	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr20:23763140-23763290	AG04449	skin:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
22	CTCF	chr20:23779888-23780427	MCF-7	breast:	n/a	chr20:23780275-23780296 chr20:23780274-23780290 chr20:23780320-23780329 chr20:23780273-23780291 chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
23	CTCF	chr20:23779920-23780070	BE2_C	brain:	n/a	chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
24	CTCF	chr20:23779880-23780030	AG10803	skin:	n/a	n/a
25	CTCF	chr20:23763180-23763330	NHDF-neo	bronchial:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
26	CTCF	chr20:23779920-23780070	HFF	foreskin:	n/a	chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
27	CTCF	chr20:23763120-23763270	GM12866	blood:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
28	CTCF	chr20:23779880-23780030	GM12872	blood:	n/a	n/a
29	CTCF	chr20:23763034-23763588	HepG2	liver:	n/a	chr20:23763450-23763471 chr20:23763448-23763466 chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210 chr20:23763449-23763465
30	CTCF	chr20:23763028-23763374	K562	blood:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
31	CTCF	chr20:23779907-23780379	GM13977	blood:	n/a	chr20:23780275-23780296 chr20:23780274-23780290 chr20:23780320-23780329 chr20:23780273-23780291 chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
32	CTCF	chr20:23780280-23780430	RPTEC	kidney:	n/a	chr20:23780320-23780329
33	CTCF	chr20:23779847-23780154	HepG2	liver:	n/a	chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
34	CTCF	chr20:23780260-23780410	GM12865	blood:	n/a	chr20:23780275-23780296 chr20:23780274-23780290 chr20:23780320-23780329 chr20:23780273-23780291
35	CTCF	chr20:23779816-23780135	HCT-116	colon:	n/a	chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
36	CTCF	chr20:23779931-23780135	Lung_OC	lung:	n/a	chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
37	CTCF	chr20:23779880-23780030	NHEK	skin:	n/a	n/a
38	CTCF	chr20:23779880-23780030	GM12864	blood:	n/a	n/a
39	CTCF	chr20:23780260-23780410	RPTEC	kidney:	n/a	chr20:23780275-23780296 chr20:23780274-23780290 chr20:23780320-23780329 chr20:23780273-23780291
40	CTCF	chr20:23763076-23763344	GM12892	blood:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
41	CTCF	chr20:23779879-23780428	HepG2	liver:	n/a	chr20:23780275-23780296 chr20:23780274-23780290 chr20:23780320-23780329 chr20:23780273-23780291 chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
42	CTCF	chr20:23763089-23763335	GM19240	blood:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
43	CTCF	chr20:23774795-23774834	GM19239	blood:	n/a	n/a
44	CTCF	chr20:23779913-23780394	LNCaP	prostate:	n/a	chr20:23780275-23780296 chr20:23780274-23780290 chr20:23780320-23780329 chr20:23780273-23780291 chr20:23780029-23780038 chr20:23780026-23780044 chr20:23780028-23780049
45	CTCF	chr20:23779880-23780030	MCF-7	breast:	n/a	n/a
46	CTCF	chr20:23763460-23763610	GM12873	blood:	n/a	n/a
47	CTCF	chr20:23763040-23763190	MCF-7	breast:	n/a	n/a
48	CTCF	chr20:23763100-23763250	GM12872	blood:	n/a	chr20:23763195-23763204 chr20:23763194-23763215 chr20:23763192-23763210
49	CTCF	chr20:23780300-23780450	GM12871	blood:	n/a	chr20:23780320-23780329
50	CTCF	chr20:23778940-23779090	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23763057..23763763-chr20:23870036..23871243,3	MCF-7	breast:
2	chr20:23704490..23705249-chr20:23762654..23763235,2	MCF-7	breast:
3	chr20:23649188..23649689-chr20:23762769..23763504,2	MCF-7	breast:
4	chr20:23704491..23705478-chr20:23779622..23780975,4	MCF-7	breast:
5	chr20:23779275..23780409-chr20:23837370..23837992,3	MCF-7	breast:
6	chr20:23645187..23645712-chr20:23775888..23776677,2	MCF-7	breast:
7	chr20:23779854..23780390-chr20:23870001..23870554,2	MCF-7	breast:
8	chr20:23648767..23649721-chr20:23779902..23780425,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CST8-3	chr20:23778778-23778924	XLOC_013494

Variant related genes	Relation type
ENSG00000230908	TF binding region
WWC2	miRNA target sites

Extended variants
information (count: 165 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570282355	chr20:23762789-23762790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140402392	chr20:23762807-23762808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150365842	chr20:23762810-23762811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188596048	chr20:23762827-23762828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193250775	chr20:23762829-23762830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538543273	chr20:23762855-23762856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138218442	chr20:23762866-23762867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184478795	chr20:23762868-23762869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187294205	chr20:23762870-23762871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561164543	chr20:23762901-23762902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191771262	chr20:23762922-23762923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6036531	chr20:23762946-23762947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183853413	chr20:23762957-23762958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559814525	chr20:23762982-23762983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531983441	chr20:23763013-23763014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552934108	chr20:23763037-23763038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6036532	chr20:23763089-23763090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111847916	chr20:23763159-23763160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141266036	chr20:23763160-23763161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115490273	chr20:23763168-23763169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180676381	chr20:23763186-23763187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184453728	chr20:23763193-23763194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144981353	chr20:23763206-23763207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6132659	chr20:23763211-23763212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138900198	chr20:23763213-23763214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6138080	chr20:23763219-23763220	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs68078958	chr20:23763238-23763239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538175795	chr20:23763243-23763244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372845158	chr20:23763244-23763245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112862431	chr20:23763247-23763248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs67732832	chr20:23763267-23763268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575860105	chr20:23763294-23763295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574340895	chr20:23763303-23763304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190535946	chr20:23763344-23763345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539990571	chr20:23763346-23763347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6138081	chr20:23763351-23763352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6138082	chr20:23763354-23763355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545503999	chr20:23763369-23763370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181871765	chr20:23763384-23763385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149371829	chr20:23763388-23763389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548901997	chr20:23763391-23763392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562364145	chr20:23763398-23763399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72536514	chr20:23763409-23763410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113267484	chr20:23763427-23763428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547977661	chr20:23763445-23763446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6132660	chr20:23763450-23763451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs77100844	chr20:23763521-23763522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549991475	chr20:23763585-23763586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116193677	chr20:23763593-23763594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535479426	chr20:23763597-23763598	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23762200-23763600	Enhancers	Dnd41	blood
2	chr20:23775400-23776600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr20:23776200-23776600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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