Variant report

Variant	esv274962
Chromosome Location	chr12:30484923-30486193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7977589	chr12:30484923-30484924	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75894701	chr12:30484969-30484970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148170484	chr12:30485125-30485126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141984646	chr12:30485161-30485162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527507127	chr12:30485167-30485168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548775514	chr12:30485168-30485169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369065614	chr12:30485189-30485190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147306207	chr12:30485212-30485213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60308907	chr12:30485218-30485219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182453319	chr12:30485220-30485221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185257521	chr12:30485234-30485235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7358794	chr12:30485235-30485236	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs891318	chr12:30485237-30485238	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551691932	chr12:30485245-30485246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369218067	chr12:30485263-30485264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566930549	chr12:30485342-30485343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7358666	chr12:30485357-30485358	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs527667380	chr12:30485427-30485428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549093269	chr12:30485452-30485453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192418586	chr12:30485535-30485536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183733113	chr12:30485536-30485537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75486356	chr12:30485584-30485585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11835626	chr12:30485611-30485612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560470373	chr12:30485617-30485618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10771699	chr12:30485625-30485626	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs542816064	chr12:30485626-30485627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11050826	chr12:30485646-30485647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531431617	chr12:30485696-30485697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113903678	chr12:30485700-30485701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564524689	chr12:30485719-30485720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73287069	chr12:30485729-30485730	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551633028	chr12:30485767-30485768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567172154	chr12:30485785-30485786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367889902	chr12:30485800-30485801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188714704	chr12:30485850-30485851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549558727	chr12:30485852-30485853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58747169	chr12:30485866-30485867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538324334	chr12:30485886-30485887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556720049	chr12:30485912-30485913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375801731	chr12:30485945-30485946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115191799	chr12:30485953-30485954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9804786	chr12:30485962-30485963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386761635	chr12:30485966-30485967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9804787	chr12:30485967-30485968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563405843	chr12:30485998-30485999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139067501	chr12:30486045-30486046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149880627	chr12:30486066-30486067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576193697	chr12:30486071-30486072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144875252	chr12:30486103-30486104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564660320	chr12:30486108-30486109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30483000-30485800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr12:30483800-30485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:30484400-30485400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:30484600-30490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:30485200-30486000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:30485400-30485600	Enhancers	HUES64 Cell Line	embryonic stem cell

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