Variant report

Variant	nsv828688
Chromosome Location	chr20:12710518-12711348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556470015	chr20:12710526-12710527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2327470	chr20:12710574-12710575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545023707	chr20:12710587-12710588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183496487	chr20:12710604-12710605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186770015	chr20:12710615-12710616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540797819	chr20:12710643-12710644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191314174	chr20:12710656-12710657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182587640	chr20:12710657-12710658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556018753	chr20:12710672-12710673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147407452	chr20:12710712-12710713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138174508	chr20:12710728-12710729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6041580	chr20:12710749-12710750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571621546	chr20:12710752-12710753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2327469	chr20:12710799-12710800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547148869	chr20:12710802-12710803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2327468	chr20:12710816-12710817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186612080	chr20:12710835-12710836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191401918	chr20:12710910-12710911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141800897	chr20:12710912-12710913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538231579	chr20:12710924-12710925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560058434	chr20:12710927-12710928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183234954	chr20:12710963-12710964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79275930	chr20:12710972-12710973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77116487	chr20:12710974-12710975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200647866	chr20:12710980-12710981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541133024	chr20:12710981-12710982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74846116	chr20:12710982-12710983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189233417	chr20:12710985-12710986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562697857	chr20:12711016-12711017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575715169	chr20:12711030-12711031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193103999	chr20:12711148-12711149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543237721	chr20:12711151-12711152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563018276	chr20:12711266-12711267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185087244	chr20:12711298-12711299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374402823	chr20:12711300-12711301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535327554	chr20:12711343-12711344	Weak transcription	n/a	n/a	Overlapped CNVs	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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links