Variant report

Variant	nsv979420
Chromosome Location	chr20:23906963-23909007
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	GATA3	chr20:23907690-23907971	MCF-7	breast:	n/a	n/a
2	SIN3AK20	chr20:23907428-23908140	MCF-7	breast:	n/a	n/a
3	ZNF217	chr20:23907630-23908060	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
CSTP1	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555937163	chr20:23906978-23906979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376246223	chr20:23906993-23906994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187007887	chr20:23907040-23907041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541815265	chr20:23907048-23907049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541094312	chr20:23907091-23907092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559501341	chr20:23907095-23907096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191389247	chr20:23907100-23907101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141150110	chr20:23907132-23907133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564694350	chr20:23907164-23907165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55804682	chr20:23907185-23907186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112576153	chr20:23907210-23907211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563406272	chr20:23907216-23907217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529668098	chr20:23907352-23907353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529271578	chr20:23907353-23907354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1741624	chr20:23907365-23907366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146918391	chr20:23907377-23907378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1741625	chr20:23907429-23907430	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530820633	chr20:23907440-23907441	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs539216159	chr20:23907471-23907472	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs556241588	chr20:23907476-23907477	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs569742202	chr20:23907491-23907492	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535472810	chr20:23907512-23907513	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182145141	chr20:23907571-23907572	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs572817765	chr20:23907608-23907609	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs1361631	chr20:23907636-23907637	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs74834320	chr20:23907643-23907644	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs578135034	chr20:23907675-23907676	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs1797040	chr20:23907744-23907745	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs563467627	chr20:23907776-23907777	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs73322805	chr20:23907799-23907800	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530712426	chr20:23907801-23907802	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs542651558	chr20:23907813-23907814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528277513	chr20:23907837-23907838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2260455	chr20:23907861-23907862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189110623	chr20:23907867-23907868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547676027	chr20:23907888-23907889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570622967	chr20:23907963-23907964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193010494	chr20:23907995-23907996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149070104	chr20:23908023-23908024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143077234	chr20:23908042-23908043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535535765	chr20:23908065-23908066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535593435	chr20:23908147-23908148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550936287	chr20:23908153-23908154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77244484	chr20:23908163-23908164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1797039	chr20:23908170-23908171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148253443	chr20:23908198-23908199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2260451	chr20:23908199-23908200	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs578171237	chr20:23908215-23908216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537684056	chr20:23908228-23908229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557121969	chr20:23908283-23908284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23902000-23907800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr20:23902000-23907800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr20:23902200-23907200	Weak transcription	NHDF-Ad	bronchial
4	chr20:23902400-23909200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:23902600-23907600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr20:23902600-23909200	Weak transcription	Fetal Thymus	thymus
7	chr20:23904400-23907000	Enhancers	Pancreas	Pancrea
8	chr20:23905400-23909200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr20:23905600-23910200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr20:23905800-23910200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr20:23906000-23910000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr20:23906400-23910200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr20:23906400-23910200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr20:23906600-23908400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr20:23907200-23908400	Enhancers	NHDF-Ad	bronchial
16	chr20:23907400-23908400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:23907600-23910000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr20:23907800-23908400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr20:23907800-23908400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr20:23907800-23910200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr20:23907800-23910200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr20:23908000-23910000	Enhancers	Primary T cells from cord blood	blood
23	chr20:23908200-23909800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr20:23908200-23910000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr20:23908800-23909400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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