Variant report

Variant	nsv465681
Chromosome Location	chr8:53653547-53745838
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	chr8:53653439-53654157	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:53736377-53736496	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:53655962-53656401	HepG2	liver:	n/a	n/a
4	ATF2	chr8:53706285-53706764	GM12878	blood:	n/a	n/a
5	BACH1	chr8:53730807-53730831	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr8:53669704-53669715	K562	blood:	n/a	n/a
7	BACH1	chr8:53737850-53738162	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr8:53706468-53706729	GM12878	blood:	n/a	n/a
9	BHLHE40	chr8:53705737-53706234	GM12878	blood:	n/a	n/a
10	BHLHE40	chr8:53657221-53657310	K562	blood:	n/a	n/a
11	BRCA1	chr8:53732433-53732923	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr8:53655808-53656400	HCT-116	colon:	n/a	n/a
13	CBX3	chr8:53718617-53718855	K562	blood:	n/a	n/a
14	CBX3	chr8:53718461-53718891	HCT-116	colon:	n/a	n/a
15	CBX3	chr8:53713243-53713724	HCT-116	colon:	n/a	n/a
16	CBX3	chr8:53676556-53677517	HCT-116	colon:	n/a	n/a
17	CBX3	chr8:53713264-53713721	HCT-116	colon:	n/a	n/a
18	CBX3	chr8:53703257-53703723	HCT-116	colon:	n/a	n/a
19	CBX3	chr8:53718625-53718878	K562	blood:	n/a	n/a
20	CBX3	chr8:53718484-53718948	HCT-116	colon:	n/a	n/a
21	CEBPB	chr8:53736308-53736667	HepG2	liver:	n/a	chr8:53736481-53736492
22	CEBPB	chr8:53729282-53729586	Hela-S3	cervix:	n/a	chr8:53729422-53729433
23	CEBPB	chr8:53724602-53724785	A549	lung:	n/a	n/a
24	CEBPB	chr8:53732442-53733715	Hela-S3	cervix:	n/a	chr8:53733578-53733589
25	CEBPB	chr8:53684721-53684767	HepG2	liver:	n/a	n/a
26	CEBPB	chr8:53683447-53683741	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr8:53732653-53732837	A549	lung:	n/a	n/a
28	CEBPB	chr8:53744690-53745080	A549	lung:	n/a	n/a
29	CEBPB	chr8:53653568-53654202	Hela-S3	cervix:	n/a	chr8:53653987-53653998 chr8:53653987-53653998 chr8:53653985-53653998 chr8:53653985-53653996
30	CEBPB	chr8:53729277-53729526	HepG2	liver:	n/a	chr8:53729422-53729433
31	CEBPB	chr8:53653422-53654150	HepG2	liver:	n/a	chr8:53653987-53653998 chr8:53653987-53653998 chr8:53653985-53653998 chr8:53653985-53653996
32	CEBPB	chr8:53737808-53738283	Hela-S3	cervix:	n/a	chr8:53738190-53738203
33	CEBPB	chr8:53704559-53704561	HepG2	liver:	n/a	n/a
34	CEBPB	chr8:53744670-53745012	MCF-7	breast:	n/a	n/a
35	CEBPB	chr8:53736304-53736670	IMR90	lung:	n/a	chr8:53736481-53736492
36	CEBPB	chr8:53676751-53677242	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr8:53676763-53677300	A549	lung:	n/a	n/a
38	CEBPB	chr8:53724677-53724796	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr8:53711206-53711426	IMR90	lung:	n/a	chr8:53711336-53711349 chr8:53711336-53711349 chr8:53711338-53711349 chr8:53711336-53711347
40	CEBPB	chr8:53671321-53671649	IMR90	lung:	n/a	chr8:53671467-53671478
41	CEBPB	chr8:53736212-53736785	Hela-S3	cervix:	n/a	chr8:53736481-53736492
42	CEBPB	chr8:53732648-53733254	HepG2	liver:	n/a	n/a
43	CEBPB	chr8:53704551-53704575	A549	lung:	n/a	n/a
44	CEBPB	chr8:53676843-53677179	A549	lung:	n/a	n/a
45	CEBPB	chr8:53671405-53671563	K562	blood:	n/a	chr8:53671467-53671478
46	CEBPB	chr8:53736300-53736683	A549	lung:	n/a	chr8:53736481-53736492
47	CEBPB	chr8:53732547-53732958	MCF-7	breast:	n/a	n/a
48	CEBPB	chr8:53665753-53665807	HepG2	liver:	n/a	chr8:53665766-53665777
49	CEBPB	chr8:53736241-53736641	MCF-7	breast:	n/a	chr8:53736481-53736492
50	CEBPB	chr8:53736314-53736631	K562	blood:	n/a	chr8:53736481-53736492

No.	Distal block	Cell Line	Cell type
1	chr8:53738269..53739834-chr8:53754081..53756709,2	MCF-7	breast:
2	chr8:53711623..53712255-chr8:53854248..53854877,2	MCF-7	breast:
3	chr8:53627614..53630487-chr8:53664001..53666801,2	K562	blood:
4	chr8:53689610..53691710-chr8:53692191..53695139,2	K562	blood:
5	chr8:53627655..53629298-chr8:53662388..53664857,2	K562	blood:
6	chr8:53682437..53684027-chr8:53685716..53687633,2	MCF-7	breast:
7	chr8:53683660..53686636-chr8:53704958..53706568,2	MCF-7	breast:
8	chr8:53683660..53686636-chr8:53704958..53706568,2	MCF-7	breast:
9	chr8:53654502..53656554-chr8:53850815..53853562,2	MCF-7	breast:
10	chr1:221812817..221813738-chr8:53687326..53688171,2	MCF-7	breast:
11	chr8:53645160..53646715-chr8:53654221..53656472,2	K562	blood:
12	chr8:53625824..53627381-chr8:53665181..53668029,2	K562	blood:
13	chr8:53653974..53655794-chr8:53756951..53758784,2	MCF-7	breast:
14	chr8:53689610..53691710-chr8:53692191..53695139,2	K562	blood:
15	chr8:53676710..53678990-chr8:53681046..53682714,2	MCF-7	breast:
16	chr8:53742557..53744441-chr8:53753816..53756483,2	MCF-7	breast:
17	chr8:53682437..53684027-chr8:53685716..53687633,2	MCF-7	breast:
18	chr8:53656094..53658855-chr8:53660380..53662129,2	MCF-7	breast:
19	chr8:53676710..53678990-chr8:53681046..53682714,2	MCF-7	breast:
20	chr8:53742398..53744549-chr8:53749329..53751637,2	K562	blood:
21	chr7:61969210..61969976-chr8:53657642..53658150,2	MCF-7	breast:

Variant related genes	Relation type
RB1CC1	TF binding region
ENSG00000183729	chromatin interactions
ENSG00000023287	chromatin interactions

Extended variants
information (count: 3455 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:3455 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11782656	chr8:53653547-53653548	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574151803	chr8:53653650-53653651	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148529649	chr8:53653659-53653660	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142884568	chr8:53653660-53653661	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544481743	chr8:53653672-53653673	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151036236	chr8:53653702-53653703	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371500708	chr8:53653721-53653722	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561460152	chr8:53653787-53653788	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560641622	chr8:53653810-53653811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530305125	chr8:53653850-53653851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540953968	chr8:53653927-53653928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558965259	chr8:53653940-53653941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577413946	chr8:53653944-53653945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544470155	chr8:53653945-53653946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562980075	chr8:53653980-53653981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79130230	chr8:53653981-53653982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140959205	chr8:53654018-53654019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193037432	chr8:53654025-53654026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34482328	chr8:53654028-53654029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77070500	chr8:53654064-53654065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115285593	chr8:53654084-53654085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369653385	chr8:53654089-53654090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532459009	chr8:53654090-53654091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549515924	chr8:53654182-53654183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112161980	chr8:53654213-53654214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552717617	chr8:53654267-53654268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567835784	chr8:53654313-53654314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146893915	chr8:53654337-53654338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553434087	chr8:53654449-53654450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147958432	chr8:53654474-53654475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539059488	chr8:53654490-53654491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559242074	chr8:53654511-53654512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569244241	chr8:53654538-53654539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549332788	chr8:53654635-53654636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs375021984	chr8:53654637-53654638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs59228016	chr8:53654651-53654652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78024033	chr8:53654652-53654653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544823818	chr8:53654714-53654715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556769019	chr8:53654726-53654727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538268813	chr8:53654745-53654746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs28540127	chr8:53654756-53654757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs182241208	chr8:53654779-53654780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141722333	chr8:53654804-53654805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527733367	chr8:53654859-53654860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369468279	chr8:53654893-53654894	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564406137	chr8:53654905-53654906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186474175	chr8:53654916-53654917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549579232	chr8:53654943-53654944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567947699	chr8:53654976-53654977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536552915	chr8:53654988-53654989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53651000-53655200	Weak transcription	HMEC	breast
2	chr8:53651800-53656800	Enhancers	Hela-S3	cervix
3	chr8:53652200-53654200	Enhancers	HUVEC	blood vessel
4	chr8:53652200-53657000	Enhancers	NHEK	skin
5	chr8:53653000-53653800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:53653000-53655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:53653000-53655800	Weak transcription	Dnd41	blood
8	chr8:53653200-53654400	Enhancers	HepG2	liver
9	chr8:53653400-53655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:53653600-53653800	Enhancers	A549	lung
11	chr8:53653600-53655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:53653800-53654200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:53654200-53655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:53654200-53655400	Weak transcription	HUVEC	blood vessel
15	chr8:53654400-53655600	Weak transcription	HepG2	liver
16	chr8:53655200-53656800	Enhancers	HMEC	breast
17	chr8:53655400-53656200	Enhancers	HSMM	muscle
18	chr8:53655400-53656800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:53655400-53656800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:53655400-53656800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:53655400-53656800	Enhancers	HUVEC	blood vessel
22	chr8:53655600-53656600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:53655600-53656600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:53655600-53656600	Enhancers	HepG2	liver
25	chr8:53655600-53656600	Enhancers	NH-A	brain
26	chr8:53655600-53656800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:53655600-53656800	Enhancers	A549	lung
28	chr8:53655600-53656800	Enhancers	HSMMtube	muscle
29	chr8:53655600-53657400	Enhancers	Esophagus	oesophagus
30	chr8:53655800-53656400	Enhancers	Dnd41	blood
31	chr8:53655800-53656600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:53655800-53656800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:53656000-53656600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:53656000-53656600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:53656200-53656400	Flanking Active TSS	HSMM	muscle
36	chr8:53656400-53656800	Enhancers	HSMM	muscle
37	chr8:53656800-53659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:53656800-53659800	Weak transcription	Hela-S3	cervix
39	chr8:53656800-53660200	Weak transcription	A549	lung
40	chr8:53659600-53660000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:53659800-53660600	Enhancers	Hela-S3	cervix
42	chr8:53660600-53665800	Weak transcription	Hela-S3	cervix
43	chr8:53665800-53667400	Enhancers	Hela-S3	cervix
44	chr8:53666400-53667400	Enhancers	A549	lung
45	chr8:53666600-53667200	Enhancers	HMEC	breast
46	chr8:53666600-53667400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:53666800-53667000	Enhancers	Colon Smooth Muscle	Colon
48	chr8:53666800-53667400	Enhancers	NHEK	skin
49	chr8:53667200-53672800	Weak transcription	HMEC	breast
50	chr8:53667600-53668200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links