Variant report

Variant	nsv968113
Chromosome Location	chr5:116022462-116024990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:116019394..116021090-chr5:116023279..116025615,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79947045	chr5:116022501-116022502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75124235	chr5:116022516-116022517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548482031	chr5:116022532-116022533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562266802	chr5:116022576-116022577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192485828	chr5:116022588-116022589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540940858	chr5:116022628-116022629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551267324	chr5:116022631-116022632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138160922	chr5:116022643-116022644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183917181	chr5:116022650-116022651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571516649	chr5:116022674-116022675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77843619	chr5:116022750-116022751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566849884	chr5:116022781-116022782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535985660	chr5:116022800-116022801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540053936	chr5:116022826-116022827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546863490	chr5:116022827-116022828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188197583	chr5:116022844-116022845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149245981	chr5:116022845-116022846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77865423	chr5:116022858-116022859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533480469	chr5:116022879-116022880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375613038	chr5:116022943-116022944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2964659	chr5:116022959-116022960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs180763065	chr5:116023000-116023001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7702571	chr5:116023040-116023041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150569583	chr5:116023070-116023071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541859862	chr5:116023073-116023074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186395369	chr5:116023084-116023085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189681896	chr5:116023109-116023110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7702326	chr5:116023112-116023113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181726403	chr5:116023183-116023184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185849284	chr5:116023189-116023190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559916785	chr5:116023203-116023204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7702615	chr5:116023227-116023228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533717957	chr5:116023244-116023245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76084000	chr5:116023268-116023269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7702642	chr5:116023327-116023328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7722683	chr5:116023340-116023341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566818407	chr5:116023381-116023382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529274968	chr5:116023382-116023383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534709215	chr5:116023396-116023397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7703103	chr5:116023525-116023526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2933614	chr5:116023562-116023563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9327018	chr5:116023571-116023572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs78419535	chr5:116023605-116023606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4920926	chr5:116023627-116023628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570402574	chr5:116023682-116023683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139554616	chr5:116023696-116023697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113338520	chr5:116023705-116023706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572768295	chr5:116023733-116023734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541475054	chr5:116023833-116023834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555424483	chr5:116023840-116023841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116016000-116032000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:116020800-116022800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:116021800-116022600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:116021800-116022600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:116021800-116022600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:116021800-116022800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:116022000-116022600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:116022200-116022600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:116022200-116022600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:116022400-116024000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:116022600-116031000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:116022800-116029600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:116022800-116031400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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