Variant report

Variant	nsv912664
Chromosome Location	chr20:10907037-10963675
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	ARID3A	chr20:10930538-10931066	HepG2	liver:	n/a	n/a
2	ATF2	chr20:10921464-10921999	GM12878	blood:	n/a	n/a
3	ATF2	chr20:10921483-10921991	GM12878	blood:	n/a	n/a
4	BATF	chr20:10921628-10921969	GM12878	blood:	n/a	n/a
5	BATF	chr20:10926808-10927118	GM12878	blood:	n/a	chr20:10926963-10926974
6	BATF	chr20:10926799-10927109	GM12878	blood:	n/a	chr20:10926963-10926974
7	BATF	chr20:10921517-10921985	GM12878	blood:	n/a	n/a
8	BCL11A	chr20:10921618-10921964	GM12878	blood:	n/a	chr20:10921812-10921821
9	BCLAF1	chr20:10921497-10921915	GM12878	blood:	n/a	chr20:10921526-10921535 chr20:10921812-10921821
10	CEBPB	chr20:10958048-10958266	HepG2	liver:	n/a	chr20:10958166-10958177
11	CEBPB	chr20:10920198-10920657	A549	lung:	n/a	chr20:10920419-10920430
12	CEBPB	chr20:10939955-10939972	IMR90	lung:	n/a	n/a
13	CEBPB	chr20:10920169-10920671	ECC-1	luminal epithelium:	n/a	chr20:10920419-10920430
14	CEBPB	chr20:10920252-10920581	H1-hESC	embryonic stem cell:	n/a	chr20:10920419-10920430
15	CEBPB	chr20:10944328-10944544	IMR90	lung:	n/a	chr20:10944440-10944451 chr20:10944440-10944453 chr20:10944442-10944451 chr20:10944441-10944452
16	CEBPB	chr20:10946599-10946917	IMR90	lung:	n/a	chr20:10946670-10946682 chr20:10946755-10946764 chr20:10946753-10946764 chr20:10946753-10946766
17	CEBPB	chr20:10938952-10939271	Hela-S3	cervix:	n/a	chr20:10939117-10939128
18	CEBPB	chr20:10920245-10920605	HepG2	liver:	n/a	chr20:10920419-10920430
19	CEBPB	chr20:10938985-10939294	A549	lung:	n/a	chr20:10939117-10939128
20	CEBPB	chr20:10938966-10939293	HepG2	liver:	n/a	chr20:10939117-10939128
21	CEBPB	chr20:10907244-10907392	HepG2	liver:	n/a	chr20:10907262-10907273 chr20:10907261-10907274
22	CEBPB	chr20:10946688-10946865	HepG2	liver:	n/a	chr20:10946755-10946764 chr20:10946753-10946764 chr20:10946753-10946766
23	CEBPB	chr20:10920205-10920628	ECC-1	luminal epithelium:	n/a	chr20:10920419-10920430
24	CEBPB	chr20:10944305-10944560	HepG2	liver:	n/a	chr20:10944440-10944451 chr20:10944440-10944453 chr20:10944442-10944451 chr20:10944441-10944452
25	CEBPB	chr20:10920162-10920737	HCT-116	colon:	n/a	chr20:10920419-10920430
26	CEBPB	chr20:10920267-10920585	K562	blood:	n/a	chr20:10920419-10920430
27	CEBPB	chr20:10962978-10963711	IMR90	lung:	n/a	n/a
28	CEBPB	chr20:10920327-10920518	MCF-7	breast:	n/a	chr20:10920419-10920430
29	CEBPB	chr20:10938971-10939296	IMR90	lung:	n/a	chr20:10939117-10939128
30	CEBPB	chr20:10956744-10956920	HepG2	liver:	n/a	chr20:10956877-10956888
31	CEBPB	chr20:10908723-10908979	A549	lung:	n/a	n/a
32	CEBPB	chr20:10960064-10960163	HepG2	liver:	n/a	chr20:10960117-10960130
33	CEBPB	chr20:10920228-10920617	A549	lung:	n/a	chr20:10920419-10920430
34	CEBPB	chr20:10934180-10934425	HepG2	liver:	n/a	chr20:10934333-10934344
35	CEBPB	chr20:10920234-10920626	IMR90	lung:	n/a	chr20:10920419-10920430
36	CEBPB	chr20:10919973-10920622	Hela-S3	cervix:	n/a	chr20:10920419-10920430
37	CEBPB	chr20:10920015-10920729	A549	lung:	n/a	chr20:10920419-10920430
38	CEBPB	chr20:10920121-10920765	HCT-116	colon:	n/a	chr20:10920419-10920430
39	CEBPB	chr20:10934242-10934417	H1-hESC	embryonic stem cell:	n/a	chr20:10934333-10934344
40	CHD2	chr20:10921590-10922083	GM12878	blood:	n/a	n/a
41	CREB1	chr20:10921482-10921996	GM12878	blood:	n/a	n/a
42	CREB1	chr20:10921476-10922030	GM12878	blood:	n/a	n/a
43	CTCF	chr20:10938120-10938270	A549	lung:	n/a	n/a
44	CTCF	chr20:10921865-10921952	GM12878	blood:	n/a	n/a
45	CTCF	chr20:10935140-10935290	HMEC	breast:	n/a	n/a
46	CTCF	chr20:10953000-10953150	HMF	breast:	n/a	n/a
47	CTCF	chr20:10921639-10921756	GM19238	blood:	n/a	chr20:10921687-10921695
48	CTCF	chr20:10953020-10953170	AG10803	skin:	n/a	n/a
49	CTCF	chr20:10953000-10953150	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr20:10952920-10953070	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:10930485..10933340-chr20:10934400..10936093,2	MCF-7	breast:
2	chr20:10930485..10933340-chr20:10934400..10936093,2	MCF-7	breast:
3	chr20:10944575..10946773-chr20:10949732..10951770,2	MCF-7	breast:
4	chr14:24195736..24196631-chr20:10925183..10925703,2	MCF-7	breast:
5	chr20:10951681..10954310-chr20:10954543..10957631,3	MCF-7	breast:
6	chr20:10936575..10938145-chr20:10942175..10944013,2	K562	blood:
7	chr20:10951681..10954310-chr20:10954543..10957631,3	MCF-7	breast:
8	chr20:10948680..10951051-chr20:10969324..10972061,2	MCF-7	breast:
9	chr20:10936575..10938145-chr20:10942175..10944013,2	K562	blood:
10	chr20:10944575..10946773-chr20:10949732..10951770,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270792	TF binding region

Extended variants
information (count: 2450 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2450 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs964266	chr20:10907037-10907038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555792752	chr20:10907042-10907043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557329225	chr20:10907065-10907066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569497270	chr20:10907068-10907069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538074832	chr20:10907080-10907081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370034217	chr20:10907105-10907106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558368420	chr20:10907111-10907112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374462687	chr20:10907163-10907164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578212985	chr20:10907193-10907194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144110098	chr20:10907197-10907198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554262898	chr20:10907251-10907252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146472934	chr20:10907263-10907264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543010816	chr20:10907281-10907282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561856385	chr20:10907299-10907300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575523804	chr20:10907311-10907312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189283254	chr20:10907338-10907339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564346621	chr20:10907339-10907340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76679868	chr20:10907364-10907365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6077959	chr20:10907416-10907417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546291946	chr20:10907466-10907467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148958262	chr20:10907490-10907491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546906663	chr20:10907555-10907556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143705668	chr20:10907604-10907605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181988410	chr20:10907623-10907624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1232581	chr20:10907643-10907644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373662669	chr20:10907650-10907651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71334432	chr20:10907660-10907661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371353546	chr20:10907665-10907666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6077960	chr20:10907668-10907669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58283306	chr20:10907670-10907671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76847187	chr20:10907671-10907672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9712403	chr20:10907674-10907675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6077961	chr20:10907703-10907704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200176317	chr20:10907751-10907752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151049120	chr20:10907774-10907775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574154549	chr20:10907840-10907841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558571678	chr20:10907866-10907867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575123963	chr20:10907871-10907872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546958971	chr20:10907955-10907956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372951685	chr20:10907956-10907957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112954017	chr20:10907993-10907994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576349970	chr20:10907998-10907999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186877437	chr20:10908004-10908005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544541830	chr20:10908011-10908012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140924253	chr20:10908098-10908099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190051186	chr20:10908113-10908114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76728619	chr20:10908156-10908157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77635697	chr20:10908167-10908168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114389620	chr20:10908208-10908209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116500272	chr20:10908210-10908211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10900600-10908000	Weak transcription	Right Atrium	heart
2	chr20:10901000-10907800	Weak transcription	Ovary	ovary
3	chr20:10901000-10920200	Weak transcription	Aorta	Aorta
4	chr20:10903800-10907400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:10904000-10909400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr20:10904200-10909000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr20:10904200-10909000	Weak transcription	Adipose Nuclei	Adipose
8	chr20:10904200-10909200	Weak transcription	Fetal Muscle Leg	muscle
9	chr20:10904200-10909400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr20:10904800-10907400	Enhancers	HUVEC	blood vessel
11	chr20:10905000-10908600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:10905000-10909800	Weak transcription	Psoas Muscle	Psoas
13	chr20:10905800-10908200	Weak transcription	HSMM	muscle
14	chr20:10906000-10907800	Weak transcription	Fetal Lung	lung
15	chr20:10906000-10907800	Weak transcription	Pancreas	Pancrea
16	chr20:10906000-10908400	Weak transcription	NH-A	brain
17	chr20:10906000-10908800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr20:10906200-10907800	Weak transcription	HSMMtube	muscle
19	chr20:10906200-10909000	Weak transcription	Fetal Stomach	stomach
20	chr20:10906200-10909200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr20:10906400-10909000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:10906400-10909000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr20:10906800-10908000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr20:10906800-10908000	Weak transcription	Spleen	Spleen
25	chr20:10906800-10908000	Weak transcription	Osteobl	bone
26	chr20:10906800-10908200	Weak transcription	HMEC	breast
27	chr20:10906800-10908600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr20:10906800-10908600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr20:10906800-10909000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr20:10906800-10909000	Weak transcription	NHLF	lung
31	chr20:10906800-10914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr20:10907000-10908600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:10907400-10908000	Weak transcription	HUVEC	blood vessel
34	chr20:10907400-10908200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr20:10907800-10908400	Enhancers	Pancreas	Pancrea
36	chr20:10907800-10908400	Enhancers	HSMMtube	muscle
37	chr20:10907800-10910200	Enhancers	Fetal Lung	lung
38	chr20:10907800-10910200	Enhancers	Ovary	ovary
39	chr20:10908000-10908400	Enhancers	Spleen	Spleen
40	chr20:10908000-10908600	Enhancers	Right Atrium	heart
41	chr20:10908000-10909400	Enhancers	Osteobl	bone
42	chr20:10908000-10910200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr20:10908000-10910200	Enhancers	HUVEC	blood vessel
44	chr20:10908200-10908400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr20:10908200-10909400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr20:10908200-10909400	Enhancers	HSMM	muscle
47	chr20:10908200-10909600	Enhancers	NHDF-Ad	bronchial
48	chr20:10908400-10909000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr20:10908400-10909200	Weak transcription	Pancreas	Pancrea
50	chr20:10908400-10909200	Weak transcription	HSMMtube	muscle

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