Variant report

Variant	nsv981963
Chromosome Location	chr8:87671867-87673955
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	MAFK	chr8:87673884-87674071	HepG2	liver:	n/a	chr8:87674029-87674044
2	STAT3	chr8:87673765-87673944	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87668814..87670322-chr8:87672192..87674304,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221137	TF binding region
GOLGA2P1	TF binding region
ENSG00000221137	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535935546	chr8:87671900-87671901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115027349	chr8:87671934-87671935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569087970	chr8:87671952-87671953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539659009	chr8:87671989-87671990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541242526	chr8:87671993-87671994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563405003	chr8:87672230-87672231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530691823	chr8:87672249-87672250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78878760	chr8:87672250-87672251	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1009574	chr8:87672258-87672259	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528398553	chr8:87672261-87672262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190365041	chr8:87672306-87672307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs193190366	chr8:87672353-87672354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3824163	chr8:87672378-87672379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550646746	chr8:87672389-87672390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114757210	chr8:87672438-87672439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539597636	chr8:87672449-87672450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557938001	chr8:87672469-87672470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112024502	chr8:87672492-87672493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375201091	chr8:87672494-87672495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79219872	chr8:87672539-87672540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548478144	chr8:87672558-87672559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76088268	chr8:87672598-87672599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112505110	chr8:87672637-87672638	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4961207	chr8:87672651-87672652	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184603136	chr8:87672665-87672666	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115874178	chr8:87672687-87672688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530831062	chr8:87672688-87672689	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575417171	chr8:87672692-87672693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545982942	chr8:87672708-87672709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368801149	chr8:87672727-87672728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564264131	chr8:87672750-87672751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577733030	chr8:87672773-87672774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372577086	chr8:87672795-87672796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188971426	chr8:87672835-87672836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112770668	chr8:87672855-87672856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181296891	chr8:87672866-87672867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550563093	chr8:87672873-87672874	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139224579	chr8:87672894-87672895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533242671	chr8:87672898-87672899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149928220	chr8:87672905-87672906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111566359	chr8:87672927-87672928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534160628	chr8:87672932-87672933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549617514	chr8:87672953-87672954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146474594	chr8:87672961-87672962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535395991	chr8:87672978-87672979	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4960985	chr8:87672990-87672991	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535169042	chr8:87673021-87673022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575355042	chr8:87673037-87673038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539536764	chr8:87673068-87673069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557596547	chr8:87673142-87673143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Prostate cancer	20978177	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87669400-87672000	Enhancers	Pancreas	Pancrea
2	chr8:87673200-87673800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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