Variant report

Variant	esv3171
Chromosome Location	chr12:67116953-67117175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150728744	chr12:67116969-67116970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs56851800	chr12:67116987-67116988	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150227863	chr12:67116990-67116991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372320128	chr12:67116993-67116994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201880706	chr12:67117006-67117007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60387782	chr12:67117008-67117009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373502138	chr12:67117010-67117011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373589565	chr12:67117012-67117013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532278996	chr12:67117014-67117015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57541857	chr12:67117016-67117017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61690289	chr12:67117020-67117021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201326658	chr12:67117022-67117023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151126181	chr12:67117023-67117024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556098585	chr12:67117024-67117025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75981182	chr12:67117063-67117064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370920714	chr12:67117067-67117068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36107742	chr12:67117068-67117069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375689756	chr12:67117071-67117072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370291548	chr12:67117075-67117076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553935874	chr12:67117076-67117077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71435316	chr12:67117084-67117085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71435317	chr12:67117086-67117087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60196018	chr12:67117087-67117088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28592172	chr12:67117088-67117089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67230557	chr12:67117090-67117091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57938064	chr12:67117103-67117104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539410745	chr12:67117158-67117159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557482629	chr12:67117168-67117169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67101200-67121000	Weak transcription	Right Atrium	heart
2	chr12:67110600-67118600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67116400-67117000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:67117000-67118000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links