Variant report

Variant	esv3324054
Chromosome Location	chr12:34148585-34149783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149952518	chr12:34148670-34148671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538612125	chr12:34148679-34148680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144911088	chr12:34148730-34148731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73107044	chr12:34148752-34148753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115728482	chr12:34148769-34148770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571468727	chr12:34148799-34148800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115045720	chr12:34148863-34148864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11831006	chr12:34148867-34148868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13377698	chr12:34148873-34148874	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs553895159	chr12:34148878-34148879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186103210	chr12:34148887-34148888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189380084	chr12:34148894-34148895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542732477	chr12:34148896-34148897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180736079	chr12:34148900-34148901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11053036	chr12:34148907-34148908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71442408	chr12:34148914-34148915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114686090	chr12:34148916-34148917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74904834	chr12:34148941-34148942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562722430	chr12:34148943-34148944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375612352	chr12:34148998-34148999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532372863	chr12:34149009-34149010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185864235	chr12:34149025-34149026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371729392	chr12:34149044-34149045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71459526	chr12:34149052-34149053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71459527	chr12:34149071-34149072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145738952	chr12:34149078-34149079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71459528	chr12:34149079-34149080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191163252	chr12:34149098-34149099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11053040	chr12:34149117-34149118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11053041	chr12:34149123-34149124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11053042	chr12:34149132-34149133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182939776	chr12:34149200-34149201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150544814	chr12:34149256-34149257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372178509	chr12:34149258-34149259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567384890	chr12:34149370-34149371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76874522	chr12:34149387-34149388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572368606	chr12:34149426-34149427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1627770	chr12:34149433-34149434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs186740120	chr12:34149479-34149480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538648954	chr12:34149506-34149507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558626353	chr12:34149524-34149525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561049657	chr12:34149543-34149544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190446761	chr12:34149551-34149552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369862791	chr12:34149565-34149566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535374006	chr12:34149628-34149629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555209531	chr12:34149646-34149647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558611157	chr12:34149672-34149673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531745045	chr12:34149684-34149685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574953891	chr12:34149697-34149698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543947199	chr12:34149699-34149700	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34143000-34149600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:34147200-34148800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:34147400-34148800	Enhancers	NHEK	skin
4	chr12:34147800-34148800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:34148000-34148600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:34149400-34149800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:34149400-34150600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:34149600-34150600	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links