Variant report

Variant	nsv9779
Chromosome Location	chr20:1670232-1674721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117457337	chr20:1670319-1670320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142010888	chr20:1670327-1670328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6043784	chr20:1670352-1670353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6043785	chr20:1670367-1670368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545280539	chr20:1670379-1670380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531284979	chr20:1670430-1670431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6105540	chr20:1670455-1670456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139904353	chr20:1670464-1670465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6043786	chr20:1670482-1670483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6135696	chr20:1670533-1670534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546595342	chr20:1670539-1670540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561699171	chr20:1670540-1670541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528910282	chr20:1670542-1670543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140355436	chr20:1670596-1670597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550619379	chr20:1670605-1670606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187855488	chr20:1670686-1670687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566266593	chr20:1670739-1670740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111440823	chr20:1670742-1670743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535188381	chr20:1670761-1670762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62186956	chr20:1670774-1670775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533870695	chr20:1670791-1670792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555259507	chr20:1670806-1670807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567295604	chr20:1670835-1670836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537855057	chr20:1670836-1670837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556580516	chr20:1670877-1670878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77211976	chr20:1670940-1670941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113452173	chr20:1670967-1670968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545579428	chr20:1670977-1670978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6043789	chr20:1671008-1671009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547241018	chr20:1671034-1671035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6135698	chr20:1671042-1671043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35850667	chr20:1671097-1671098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17770828	chr20:1671103-1671104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146826333	chr20:1671136-1671137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561587941	chr20:1671193-1671194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376883427	chr20:1671204-1671205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543916300	chr20:1671325-1671326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192455667	chr20:1671371-1671372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532914789	chr20:1671378-1671379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139610781	chr20:1671379-1671380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184822780	chr20:1671403-1671404	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112020922	chr20:1671404-1671405	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs371665416	chr20:1671431-1671432	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370813968	chr20:1671483-1671484	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs548818914	chr20:1671512-1671513	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs11697150	chr20:1671601-1671602	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs202528	chr20:1671618-1671619	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs201401165	chr20:1671666-1671667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs555148521	chr20:1671698-1671699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs202527	chr20:1671740-1671741	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1667800-1670800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr20:1668200-1671200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr20:1668400-1670400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr20:1668400-1670400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr20:1669800-1670600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr20:1670000-1676400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr20:1670400-1670600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr20:1670400-1670800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr20:1670600-1671400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr20:1670800-1676200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr20:1671000-1671600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr20:1671200-1671600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr20:1671400-1672400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:1673400-1675600	Enhancers	Fetal Brain Male	brain
15	chr20:1674000-1674800	Enhancers	Brain Hippocampus Middle	brain
16	chr20:1674200-1674600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr20:1674200-1674600	Enhancers	Brain Cingulate Gyrus	brain
18	chr20:1674200-1674600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr20:1674200-1674800	Enhancers	Brain Anterior Caudate	brain
20	chr20:1674200-1674800	Enhancers	Brain Substantia Nigra	brain
21	chr20:1674200-1675000	Enhancers	Brain Angular Gyrus	brain
22	chr20:1674200-1675200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr20:1674600-1675200	Enhancers	Fetal Brain Female	brain
24	chr20:1674600-1680000	Weak transcription	Brain Inferior Temporal Lobe	brain

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