Variant report

Variant	nsv979402
Chromosome Location	chr20:14276787-14280798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571940698	chr20:14276792-14276793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535352452	chr20:14276795-14276796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141404263	chr20:14276796-14276797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532330390	chr20:14276802-14276803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575373282	chr20:14276823-14276824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150857222	chr20:14276828-14276829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557847719	chr20:14276829-14276830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577622766	chr20:14276881-14276882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182699661	chr20:14276887-14276888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187030967	chr20:14276903-14276904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372563372	chr20:14276911-14276912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115370958	chr20:14276927-14276928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75696762	chr20:14276934-14276935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552465112	chr20:14276953-14276954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111401508	chr20:14276955-14276956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531157700	chr20:14276971-14276972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6135112	chr20:14276982-14276983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376037593	chr20:14276994-14276995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6110233	chr20:14277129-14277130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534969260	chr20:14277130-14277131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531542882	chr20:14277134-14277135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546629395	chr20:14277173-14277174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566511440	chr20:14277255-14277256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149512963	chr20:14277352-14277353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569274025	chr20:14277354-14277355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370995455	chr20:14277392-14277393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191711610	chr20:14277476-14277477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184631238	chr20:14277490-14277491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6110234	chr20:14277554-14277555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548356618	chr20:14277568-14277569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557619136	chr20:14277598-14277599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548210598	chr20:14277651-14277652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571366206	chr20:14277685-14277686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187572292	chr20:14277686-14277687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529208798	chr20:14277708-14277709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553840035	chr20:14277727-14277728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372815466	chr20:14277734-14277735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193301954	chr20:14277737-14277738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556041870	chr20:14277742-14277743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117756963	chr20:14277744-14277745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115999054	chr20:14277747-14277748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536734771	chr20:14277758-14277759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376363289	chr20:14277784-14277785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369012736	chr20:14277792-14277793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200831623	chr20:14277805-14277806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185382840	chr20:14277849-14277850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs118176414	chr20:14277860-14277861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145985603	chr20:14277890-14277891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536344924	chr20:14277895-14277896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529261802	chr20:14277901-14277902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14273200-14278200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14276000-14276800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:14276600-14279200	Weak transcription	NHEK	skin
4	chr20:14278200-14278800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:14278800-14280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:14279200-14279600	Enhancers	NHEK	skin

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