Variant report

Variant	nsv973052
Chromosome Location	chr12:34151744-34165608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:34159858..34162837-chr12:34175347..34177852,2	K562	blood:
2	chr12:32907346..32909769-chr12:34153874..34155673,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139131	chromatin interactions
ENSG00000139133	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146950787	chr12:34153885-34153886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185536970	chr12:34153921-34153922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537600827	chr12:34153940-34153941	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560531190	chr12:34153947-34153948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557439180	chr12:34153979-34153980	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1197568	chr12:34154009-34154010	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs533883373	chr12:34154013-34154014	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190340276	chr12:34154017-34154018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116668950	chr12:34154045-34154046	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542965536	chr12:34154048-34154049	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563167211	chr12:34154053-34154054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114646381	chr12:34154076-34154077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs115412090	chr12:34154104-34154105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145831900	chr12:34154148-34154149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527836490	chr12:34154162-34154163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547847798	chr12:34154187-34154188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4001713	chr12:34154195-34154196	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs12049938	chr12:34154221-34154222	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148984944	chr12:34154304-34154305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568769962	chr12:34154334-34154335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537739091	chr12:34154406-34154407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551207731	chr12:34154429-34154430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562345584	chr12:34154440-34154441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73107054	chr12:34154443-34154444	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79577772	chr12:34154467-34154468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs638101	chr12:34154512-34154513	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573575939	chr12:34154597-34154598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182787117	chr12:34154599-34154600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556907981	chr12:34154611-34154612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576852366	chr12:34154641-34154642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545715743	chr12:34154645-34154646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559223212	chr12:34154656-34154657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148167468	chr12:34154658-34154659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563350500	chr12:34154686-34154687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541183319	chr12:34154693-34154694	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186043157	chr12:34154700-34154701	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530049542	chr12:34154720-34154721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541613620	chr12:34154790-34154791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376199764	chr12:34154791-34154792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543838678	chr12:34154796-34154797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112425724	chr12:34154798-34154799	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559765657	chr12:34154828-34154829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145027025	chr12:34154880-34154881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201998882	chr12:34154887-34154888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190810488	chr12:34154895-34154896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142075245	chr12:34154913-34154914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547176346	chr12:34154917-34154918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567315744	chr12:34154975-34154976	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535957727	chr12:34154976-34154977	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556244732	chr12:34155139-34155140	Inactive region	Chromatin interactive region	1 gene(s)	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34164000-34164200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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