Variant report

Variant	esv2760256
Chromosome Location	chr12:41525540-41542361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 257 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56252901	chr12:41533403-41533404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534234558	chr12:41533405-41533406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559452259	chr12:41533452-41533453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75748361	chr12:41533466-41533467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560641174	chr12:41533529-41533530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564257626	chr12:41533567-41533568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186031504	chr12:41533661-41533662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546815995	chr12:41533699-41533700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79126840	chr12:41533739-41533740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532303301	chr12:41533764-41533765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113685327	chr12:41533794-41533795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550483485	chr12:41533798-41533799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35999552	chr12:41533819-41533820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568480156	chr12:41533835-41533836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535847390	chr12:41533857-41533858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554365329	chr12:41533871-41533872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369575102	chr12:41533913-41533914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566600886	chr12:41533943-41533944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151328950	chr12:41533961-41533962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559131279	chr12:41533972-41533973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs776560	chr12:41533983-41533984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs118034366	chr12:41534008-41534009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556902289	chr12:41534037-41534038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146434230	chr12:41534052-41534053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574840855	chr12:41534108-41534109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140672008	chr12:41534117-41534118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560375066	chr12:41534121-41534122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527822949	chr12:41534156-41534157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144589268	chr12:41534159-41534160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565064706	chr12:41534175-41534176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532191181	chr12:41534257-41534258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550421436	chr12:41534303-41534304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569290301	chr12:41534318-41534319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191131904	chr12:41534338-41534339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375321094	chr12:41534343-41534344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs776561	chr12:41534359-41534360	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548202060	chr12:41534419-41534420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76478064	chr12:41534421-41534422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182031395	chr12:41534472-41534473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187643140	chr12:41534589-41534590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533855398	chr12:41534621-41534622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386762427	chr12:41534631-41534632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60209215	chr12:41534632-41534633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146675434	chr12:41534643-41534644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113380604	chr12:41534656-41534657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575249358	chr12:41534674-41534675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541844528	chr12:41534724-41534725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548743319	chr12:41534784-41534785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554166226	chr12:41534787-41534788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572372415	chr12:41534843-41534844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41533400-41534400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:41533400-41534600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:41533600-41534200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:41533600-41534400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:41533600-41534800	Enhancers	Colon Smooth Muscle	Colon
6	chr12:41533800-41534200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:41533800-41534400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:41533800-41534400	Enhancers	HUVEC	blood vessel
9	chr12:41533800-41536200	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:41534000-41534600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:41534200-41535200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:41534400-41534800	Enhancers	Aorta	Aorta
13	chr12:41534800-41535200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:41534800-41538600	Weak transcription	Aorta	Aorta
15	chr12:41535200-41535400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:41535200-41535800	Enhancers	Colon Smooth Muscle	Colon
17	chr12:41538600-41539000	Enhancers	Aorta	Aorta
18	chr12:41539000-41540200	Weak transcription	Aorta	Aorta
19	chr12:41540400-41540600	Enhancers	Aorta	Aorta

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