Variant report

Variant	nsv1029905
Chromosome Location	chr8:53661905-53769367
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	chr8:53736377-53736496	HepG2	liver:	n/a	n/a
2	ATF2	chr8:53706285-53706764	GM12878	blood:	n/a	n/a
3	BACH1	chr8:53730807-53730831	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr8:53737850-53738162	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr8:53752697-53752724	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr8:53669704-53669715	K562	blood:	n/a	n/a
7	BATF	chr8:53752228-53752795	GM12878	blood:	n/a	n/a
8	BCL3	chr8:53752546-53752884	GM12878	blood:	n/a	chr8:53752683-53752692
9	BHLHE40	chr8:53706468-53706729	GM12878	blood:	n/a	n/a
10	BHLHE40	chr8:53705737-53706234	GM12878	blood:	n/a	n/a
11	BRCA1	chr8:53756167-53756690	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr8:53732433-53732923	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr8:53703257-53703723	HCT-116	colon:	n/a	n/a
14	CBX3	chr8:53713264-53713721	HCT-116	colon:	n/a	n/a
15	CBX3	chr8:53718617-53718855	K562	blood:	n/a	n/a
16	CBX3	chr8:53676556-53677517	HCT-116	colon:	n/a	n/a
17	CBX3	chr8:53713243-53713724	HCT-116	colon:	n/a	n/a
18	CBX3	chr8:53718625-53718878	K562	blood:	n/a	n/a
19	CBX3	chr8:53718484-53718948	HCT-116	colon:	n/a	n/a
20	CBX3	chr8:53718461-53718891	HCT-116	colon:	n/a	n/a
21	CEBPB	chr8:53671328-53671608	HepG2	liver:	n/a	chr8:53671467-53671478
22	CEBPB	chr8:53671405-53671563	K562	blood:	n/a	chr8:53671467-53671478
23	CEBPB	chr8:53683447-53683741	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr8:53736203-53736837	A549	lung:	n/a	chr8:53736481-53736492
25	CEBPB	chr8:53711242-53711417	K562	blood:	n/a	chr8:53711336-53711349 chr8:53711336-53711349 chr8:53711338-53711349 chr8:53711336-53711347
26	CEBPB	chr8:53733503-53733820	HepG2	liver:	n/a	chr8:53733578-53733589
27	CEBPB	chr8:53752549-53752841	MCF-7	breast:	n/a	chr8:53752731-53752742 chr8:53752731-53752742 chr8:53752731-53752744
28	CEBPB	chr8:53729282-53729586	Hela-S3	cervix:	n/a	chr8:53729422-53729433
29	CEBPB	chr8:53736308-53736667	HepG2	liver:	n/a	chr8:53736481-53736492
30	CEBPB	chr8:53736241-53736641	MCF-7	breast:	n/a	chr8:53736481-53736492
31	CEBPB	chr8:53736276-53736675	A549	lung:	n/a	chr8:53736481-53736492
32	CEBPB	chr8:53729292-53729595	A549	lung:	n/a	chr8:53729422-53729433
33	CEBPB	chr8:53763040-53763050	K562	blood:	n/a	n/a
34	CEBPB	chr8:53724633-53724811	HepG2	liver:	n/a	n/a
35	CEBPB	chr8:53732653-53732837	A549	lung:	n/a	n/a
36	CEBPB	chr8:53756219-53756752	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr8:53744670-53745012	MCF-7	breast:	n/a	n/a
38	CEBPB	chr8:53736316-53736670	H1-hESC	embryonic stem cell:	n/a	chr8:53736481-53736492
39	CEBPB	chr8:53684645-53684902	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr8:53724677-53724796	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr8:53732648-53733254	HepG2	liver:	n/a	n/a
42	CEBPB	chr8:53763008-53763208	HepG2	liver:	n/a	chr8:53763044-53763055
43	CEBPB	chr8:53744690-53745080	A549	lung:	n/a	n/a
44	CEBPB	chr8:53711206-53711426	IMR90	lung:	n/a	chr8:53711336-53711349 chr8:53711336-53711349 chr8:53711338-53711349 chr8:53711336-53711347
45	CEBPB	chr8:53732540-53732883	MCF-7	breast:	n/a	n/a
46	CEBPB	chr8:53676751-53677242	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr8:53737808-53738283	Hela-S3	cervix:	n/a	chr8:53738190-53738203
48	CEBPB	chr8:53665753-53665807	HepG2	liver:	n/a	chr8:53665766-53665777
49	CEBPB	chr8:53724602-53724785	A549	lung:	n/a	n/a
50	CEBPB	chr8:53732442-53733715	Hela-S3	cervix:	n/a	chr8:53733578-53733589

No.	Distal block	Cell Line	Cell type
1	chr8:53627614..53630487-chr8:53664001..53666801,2	K562	blood:
2	chr8:53751467..53754365-chr8:53754550..53756405,2	MCF-7	breast:
3	chr8:53682437..53684027-chr8:53685716..53687633,2	MCF-7	breast:
4	chr8:53738269..53739834-chr8:53754081..53756709,2	MCF-7	breast:
5	chr8:53656094..53658855-chr8:53660380..53662129,2	MCF-7	breast:
6	chr8:53711623..53712255-chr8:53854248..53854877,2	MCF-7	breast:
7	chr8:53676710..53678990-chr8:53681046..53682714,2	MCF-7	breast:
8	chr8:53625824..53627381-chr8:53665181..53668029,2	K562	blood:
9	chr8:53742557..53744441-chr8:53753816..53756483,2	MCF-7	breast:
10	chr8:53763900..53765944-chr8:53767253..53769124,2	MCF-7	breast:
11	chr8:53683660..53686636-chr8:53704958..53706568,2	MCF-7	breast:
12	chr8:53689610..53691710-chr8:53692191..53695139,2	K562	blood:
13	chr8:53751467..53754365-chr8:53754550..53756405,2	MCF-7	breast:
14	chr8:53653974..53655794-chr8:53756951..53758784,2	MCF-7	breast:
15	chr8:53742557..53744441-chr8:53753816..53756483,2	MCF-7	breast:
16	chr8:53689610..53691710-chr8:53692191..53695139,2	K562	blood:
17	chr8:53683660..53686636-chr8:53704958..53706568,2	MCF-7	breast:
18	chr8:53738269..53739834-chr8:53754081..53756709,2	MCF-7	breast:
19	chr8:53742398..53744549-chr8:53749329..53751637,2	K562	blood:
20	chr1:221812817..221813738-chr8:53687326..53688171,2	MCF-7	breast:
21	chr8:53676710..53678990-chr8:53681046..53682714,2	MCF-7	breast:
22	chr8:53682437..53684027-chr8:53685716..53687633,2	MCF-7	breast:
23	chr8:53627655..53629298-chr8:53662388..53664857,2	K562	blood:
24	chr8:53742398..53744549-chr8:53749329..53751637,2	K562	blood:
25	chr8:53763900..53765944-chr8:53767253..53769124,2	MCF-7	breast:

Variant related genes	Relation type
RB1CC1	TF binding region
ENSG00000023287	chromatin interactions

Extended variants
information (count: 4033 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:4033 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541809746	chr8:53661914-53661915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371920162	chr8:53661928-53661929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150311027	chr8:53661965-53661966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550299957	chr8:53662026-53662027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113444325	chr8:53662076-53662077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552368759	chr8:53662093-53662094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs137993668	chr8:53662131-53662132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531396062	chr8:53662135-53662136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570377071	chr8:53662176-53662177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140761738	chr8:53662184-53662185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144594315	chr8:53662192-53662193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537323801	chr8:53662201-53662202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138540477	chr8:53662203-53662204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141845959	chr8:53662218-53662219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567176346	chr8:53662226-53662227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527714729	chr8:53662311-53662312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7014449	chr8:53662338-53662339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs559278356	chr8:53662352-53662353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74862418	chr8:53662354-53662355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532172503	chr8:53662361-53662362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538438419	chr8:53662378-53662379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144647887	chr8:53662411-53662412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148023888	chr8:53662413-53662414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569703712	chr8:53662440-53662441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542222410	chr8:53662465-53662466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568719058	chr8:53662498-53662499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189888815	chr8:53662571-53662572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17252853	chr8:53662598-53662599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141738004	chr8:53662618-53662619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375319521	chr8:53662702-53662703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199552350	chr8:53662755-53662756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552386422	chr8:53662774-53662775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146552532	chr8:53662847-53662848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181114822	chr8:53662871-53662872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572606742	chr8:53662893-53662894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541234459	chr8:53662905-53662906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150634408	chr8:53662944-53662945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187161286	chr8:53662958-53662959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565575024	chr8:53662974-53662975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140834584	chr8:53662979-53662980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554669113	chr8:53662984-53662985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144756416	chr8:53663114-53663115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567939390	chr8:53663125-53663126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571109058	chr8:53663157-53663158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190461832	chr8:53663197-53663198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556758998	chr8:53663221-53663222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181993416	chr8:53663223-53663224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73681441	chr8:53663252-53663253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201450428	chr8:53663304-53663305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535601450	chr8:53663324-53663325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	21645411	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53660600-53665800	Weak transcription	Hela-S3	cervix
2	chr8:53665800-53667400	Enhancers	Hela-S3	cervix
3	chr8:53666400-53667400	Enhancers	A549	lung
4	chr8:53666600-53667200	Enhancers	HMEC	breast
5	chr8:53666600-53667400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:53666800-53667000	Enhancers	Colon Smooth Muscle	Colon
7	chr8:53666800-53667400	Enhancers	NHEK	skin
8	chr8:53667200-53672800	Weak transcription	HMEC	breast
9	chr8:53667600-53668200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:53669000-53669200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr8:53669200-53669800	Enhancers	Dnd41	blood
12	chr8:53669800-53671000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:53669800-53671000	Weak transcription	Dnd41	blood
14	chr8:53670400-53670600	Enhancers	HSMMtube	muscle
15	chr8:53671000-53671600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:53671000-53672600	Enhancers	Dnd41	blood
17	chr8:53671600-53672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:53671800-53673800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr8:53672000-53674000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:53672000-53674000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr8:53672400-53673000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:53672400-53674000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:53672400-53674000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:53672600-53673000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:53672600-53673000	Enhancers	HSMMtube	muscle
26	chr8:53672600-53673200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:53672600-53673200	Enhancers	Spleen	Spleen
28	chr8:53672600-53673400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:53672600-53673400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:53672600-53673600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:53672600-53673800	Enhancers	HSMM	muscle
32	chr8:53672600-53674000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:53672600-53674000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr8:53672600-53674200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr8:53672600-53674200	Enhancers	Fetal Thymus	thymus
36	chr8:53672600-53674800	Flanking Active TSS	Dnd41	blood
37	chr8:53672800-53673200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:53672800-53673200	Enhancers	HMEC	breast
39	chr8:53672800-53673800	Enhancers	Primary T cells from cord blood	blood
40	chr8:53673000-53673400	Enhancers	Thymus	Thymus
41	chr8:53673000-53676600	Weak transcription	HSMMtube	muscle
42	chr8:53673000-53677000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:53673200-53675400	Weak transcription	HMEC	breast
44	chr8:53673200-53676400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:53673200-53676600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:53673400-53675600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:53673600-53676600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:53673800-53675800	Weak transcription	HSMM	muscle
49	chr8:53673800-53678800	Weak transcription	Primary T cells from cord blood	blood
50	chr8:53673800-53680600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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