Variant report

Variant	nsv912885
Chromosome Location	chr20:41243236-41284395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
2	chr1:115299061..115301144-chr20:41248782..41252439,3	MCF-7	breast:
3	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
4	chr1:115296501..115298139-chr20:41277950..41280016,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000009307	chromatin interactions

Extended variants
information (count: 1557 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1557 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201563680	chr20:41248840-41248841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556291930	chr20:41248841-41248842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576346603	chr20:41248846-41248847	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538787715	chr20:41248866-41248867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558580245	chr20:41248911-41248912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546672269	chr20:41248922-41248923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374941617	chr20:41248941-41248942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560146413	chr20:41248956-41248957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573673625	chr20:41249000-41249001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199676719	chr20:41249012-41249013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562631250	chr20:41249025-41249026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531821062	chr20:41249026-41249027	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551903758	chr20:41249105-41249106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372690946	chr20:41249124-41249125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188325316	chr20:41249166-41249167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527951396	chr20:41249182-41249183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs13043196	chr20:41249184-41249185	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141914552	chr20:41249188-41249189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191471012	chr20:41249189-41249190	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150640362	chr20:41249190-41249191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569723042	chr20:41249201-41249202	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538480512	chr20:41249211-41249212	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200982831	chr20:41249224-41249225	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533846164	chr20:41249229-41249230	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565724736	chr20:41249230-41249231	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61141087	chr20:41249231-41249232	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183690388	chr20:41249237-41249238	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573736704	chr20:41249244-41249245	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542571598	chr20:41249255-41249256	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556240469	chr20:41249256-41249257	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187722554	chr20:41249302-41249303	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545288316	chr20:41249314-41249315	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565502902	chr20:41249323-41249324	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558476479	chr20:41249329-41249330	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs199648057	chr20:41249338-41249339	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527878585	chr20:41249351-41249352	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541788608	chr20:41249354-41249355	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs6093699	chr20:41249377-41249378	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529719380	chr20:41249389-41249390	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375158846	chr20:41249425-41249426	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6093700	chr20:41249440-41249441	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192485761	chr20:41249442-41249443	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs180751961	chr20:41249443-41249444	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534507813	chr20:41249447-41249448	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554449893	chr20:41249448-41249449	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567966269	chr20:41249451-41249452	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs6102953	chr20:41249453-41249454	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs374704741	chr20:41249454-41249455	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556103527	chr20:41249469-41249470	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs6093701	chr20:41249470-41249471	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41249200-41249600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr20:41249200-41249600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr20:41249200-41249800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr20:41249200-41249800	Active TSS	Duodenum Mucosa	Duodenum
5	chr20:41251400-41252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr20:41251400-41253800	Enhancers	NHEK	skin
7	chr20:41251600-41253600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr20:41251800-41252400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr20:41251800-41252600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr20:41257000-41258200	Enhancers	Liver	Liver
12	chr20:41263000-41263400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr20:41263000-41264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr20:41270200-41270800	Enhancers	Pancreas	Pancrea
15	chr20:41270200-41271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr20:41277000-41277400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr20:41278600-41279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr20:41278800-41279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr20:41279000-41279400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr20:41281000-41281400	Enhancers	Gastric	stomach
22	chr20:41281200-41281600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:41281400-41285600	Weak transcription	Gastric	stomach
24	chr20:41284200-41285600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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