Variant report

Variant	esv3374673
Chromosome Location	chr20:23703452-23707750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23648920..23650143-chr20:23704363..23705222,5	MCF-7	breast:
2	chr20:23648334..23649447-chr20:23704109..23705001,3	MCF-7	breast:
3	chr20:23704491..23705478-chr20:23779622..23780975,4	MCF-7	breast:
4	chr20:23704352..23705295-chr20:23754423..23755304,4	MCF-7	breast:
5	chr20:23648954..23649672-chr20:23703387..23704074,2	MCF-7	breast:
6	chr20:23704490..23705249-chr20:23762654..23763235,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3004157	chr20:23703600-23703601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2983610	chr20:23703626-23703627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3004158	chr20:23703629-23703630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184170201	chr20:23703634-23703635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370626899	chr20:23703658-23703659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534429053	chr20:23703665-23703666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554371214	chr20:23703666-23703667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577435182	chr20:23703676-23703677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6036493	chr20:23703694-23703695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556374567	chr20:23703698-23703699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146954358	chr20:23703704-23703705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541836330	chr20:23703713-23703714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112477840	chr20:23703724-23703725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189966156	chr20:23703726-23703727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556434560	chr20:23703749-23703750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529907268	chr20:23703760-23703761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192989742	chr20:23703763-23703764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560252440	chr20:23703787-23703788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184668265	chr20:23703818-23703819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532084974	chr20:23703841-23703842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551892074	chr20:23703873-23703874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568853501	chr20:23703875-23703876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189553484	chr20:23703903-23703904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368461075	chr20:23703912-23703913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180748448	chr20:23703914-23703915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534466897	chr20:23703933-23703934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554417911	chr20:23703935-23703936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571097748	chr20:23703936-23703937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11699628	chr20:23703951-23703952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23703600-23704000	Enhancers	Left Ventricle	heart

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