Variant report

Variant	esv3339684
Chromosome Location	chr12:41377185-41378483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575367884	chr12:41377209-41377210	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540196974	chr12:41377226-41377227	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181883520	chr12:41377267-41377268	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141568233	chr12:41377270-41377271	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370034436	chr12:41377271-41377272	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532181358	chr12:41377277-41377278	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572298500	chr12:41377295-41377296	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148189067	chr12:41377303-41377304	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532486271	chr12:41377392-41377393	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548376709	chr12:41377412-41377413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76515320	chr12:41377476-41377477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11179310	chr12:41377528-41377529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11179311	chr12:41377530-41377531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561403371	chr12:41377533-41377534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71449795	chr12:41377627-41377628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534210763	chr12:41377657-41377658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7138544	chr12:41377682-41377683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190040424	chr12:41377691-41377692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77505840	chr12:41377713-41377714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538270430	chr12:41377731-41377732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs278921	chr12:41377739-41377740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139203007	chr12:41377749-41377750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202088980	chr12:41377781-41377782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150987883	chr12:41377805-41377806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398116371	chr12:41377809-41377810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7296693	chr12:41377825-41377826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536015518	chr12:41377826-41377827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17128977	chr12:41377851-41377852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548446730	chr12:41377852-41377853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182108660	chr12:41377881-41377882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs278920	chr12:41377914-41377915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565207812	chr12:41377954-41377955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537173146	chr12:41377975-41377976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186266146	chr12:41378015-41378016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17552679	chr12:41378024-41378025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570417180	chr12:41378033-41378034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76128193	chr12:41378057-41378058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534620647	chr12:41378071-41378072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529804841	chr12:41378109-41378110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191609714	chr12:41378151-41378152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142518142	chr12:41378166-41378167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527906786	chr12:41378195-41378196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs443310	chr12:41378236-41378237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs391052	chr12:41378240-41378241	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs28581358	chr12:41378277-41378278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571290962	chr12:41378324-41378325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373188719	chr12:41378333-41378334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535937669	chr12:41378335-41378336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs278919	chr12:41378355-41378356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs117803702	chr12:41378455-41378456	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41374600-41404800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:41374800-41377400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:41374800-41386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:41377400-41386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:41378200-41378400	Enhancers	Pancreas	Pancrea

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