Variant report

Variant	nsv964356
Chromosome Location	chr20:1674698-1678227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs373208512	chr20:1674713-1674714	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376319656	chr20:1674714-1674715	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397828813	chr20:1674720-1674721	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201660504	chr20:1674721-1674722	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200761704	chr20:1674722-1674723	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563736466	chr20:1674758-1674759	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150084986	chr20:1674811-1674812	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73575155	chr20:1674829-1674830	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142246760	chr20:1674866-1674867	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191774052	chr20:1674896-1674897	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546829264	chr20:1674901-1674902	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114527550	chr20:1674932-1674933	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73575159	chr20:1674944-1674945	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551008298	chr20:1674946-1674947	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569608571	chr20:1674980-1674981	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536648925	chr20:1675000-1675001	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376443466	chr20:1675021-1675022	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73575160	chr20:1675042-1675043	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561488446	chr20:1675057-1675058	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374188810	chr20:1675097-1675098	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113692630	chr20:1675119-1675120	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371334185	chr20:1675142-1675143	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149606795	chr20:1675144-1675145	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534810353	chr20:1675172-1675173	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202521	chr20:1675181-1675182	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183205145	chr20:1675185-1675186	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59955461	chr20:1675200-1675201	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148740086	chr20:1675201-1675202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575546614	chr20:1675230-1675231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188089896	chr20:1675261-1675262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202520	chr20:1675292-1675293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs545785820	chr20:1675311-1675312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573046080	chr20:1675338-1675339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142296214	chr20:1675341-1675342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191505861	chr20:1675383-1675384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529486596	chr20:1675384-1675385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578033658	chr20:1675401-1675402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551211262	chr20:1675424-1675425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563052221	chr20:1675436-1675437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61108091	chr20:1675459-1675460	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552250499	chr20:1675461-1675462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59638479	chr20:1675464-1675465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534742587	chr20:1675494-1675495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544110425	chr20:1675537-1675538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546732283	chr20:1675554-1675555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568217711	chr20:1675575-1675576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556671365	chr20:1675612-1675613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535294236	chr20:1675625-1675626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557176722	chr20:1675634-1675635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182142065	chr20:1675638-1675639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1670000-1676400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr20:1670800-1676200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr20:1673400-1675600	Enhancers	Fetal Brain Male	brain
4	chr20:1674000-1674800	Enhancers	Brain Hippocampus Middle	brain
5	chr20:1674200-1674800	Enhancers	Brain Anterior Caudate	brain
6	chr20:1674200-1674800	Enhancers	Brain Substantia Nigra	brain
7	chr20:1674200-1675000	Enhancers	Brain Angular Gyrus	brain
8	chr20:1674200-1675200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:1674600-1675200	Enhancers	Fetal Brain Female	brain
10	chr20:1674600-1680000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr20:1675000-1675800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:1676000-1678400	Enhancers	Primary T cells from cord blood	blood
13	chr20:1676200-1678200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr20:1676200-1678400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr20:1676200-1678400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr20:1676200-1678600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr20:1676400-1678200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr20:1676400-1678400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr20:1676400-1678400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr20:1676600-1678200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr20:1676600-1678200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr20:1676600-1678400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr20:1676600-1678400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr20:1676800-1678000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr20:1677000-1677400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr20:1677000-1677400	Enhancers	Fetal Thymus	thymus
27	chr20:1677000-1677400	Enhancers	Dnd41	blood
28	chr20:1677000-1677600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr20:1677200-1677400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr20:1677200-1677400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr20:1677200-1678000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr20:1677600-1677800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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