Variant report

Variant	nsv527331
Chromosome Location	chr20:12713069-12713699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6033504	chr20:12713069-12713070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571816216	chr20:12713093-12713094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537760181	chr20:12713107-12713108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577286201	chr20:12713119-12713120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6134651	chr20:12713125-12713126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545983235	chr20:12713180-12713181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62203071	chr20:12713210-12713211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550850706	chr20:12713219-12713220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182461191	chr20:12713224-12713225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185666929	chr20:12713254-12713255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548499966	chr20:12713264-12713265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12625171	chr20:12713266-12713267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189689807	chr20:12713286-12713287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182632806	chr20:12713312-12713313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567559826	chr20:12713336-12713337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570493367	chr20:12713356-12713357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146976303	chr20:12713363-12713364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116569689	chr20:12713385-12713386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73900216	chr20:12713404-12713405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534929579	chr20:12713477-12713478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138094511	chr20:12713485-12713486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187595883	chr20:12713499-12713500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558124375	chr20:12713510-12713511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557090232	chr20:12713517-12713518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577226893	chr20:12713587-12713588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546323221	chr20:12713621-12713622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193223472	chr20:12713650-12713651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6041584	chr20:12713678-12713679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542074941	chr20:12713681-12713682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561990901	chr20:12713684-12713685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2210566	chr20:12713699-12713700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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
Autism	22102821	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12703200-12724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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