Variant report

Variant	nsv522855
Chromosome Location	chr20:15178253-15179023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199312	chr20:15178253-15178254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185660576	chr20:15178278-15178279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374528568	chr20:15178293-15178294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76391593	chr20:15178309-15178310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544985506	chr20:15178377-15178378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565372974	chr20:15178607-15178608	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565871724	chr20:15178609-15178610	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs57536552	chr20:15178623-15178624	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs56284199	chr20:15178625-15178626	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78533027	chr20:15178626-15178627	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs55813810	chr20:15178645-15178646	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371933187	chr20:15178710-15178711	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532558233	chr20:15178724-15178725	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs169190	chr20:15178753-15178754	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs143833794	chr20:15178767-15178768	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148162419	chr20:15178783-15178784	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs548359180	chr20:15178789-15178790	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369509205	chr20:15178826-15178827	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537605586	chr20:15178841-15178842	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs182320815	chr20:15179020-15179021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140958000	chr20:15179021-15179022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113587841	chr20:15179022-15179023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6079702	chr20:15179023-15179024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15177200-15178400	Enhancers	Primary B cells from peripheral blood	blood
2	chr20:15178600-15179000	Active TSS	Lung	lung
3	chr20:15178600-15180800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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