Variant report

Variant	esv3404761
Chromosome Location	chr12:60410885-60415483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs574514750	chr12:60410891-60410892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543628385	chr12:60410914-60410915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11173286	chr12:60410973-60410974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576765543	chr12:60410974-60410975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545788872	chr12:60410975-60410976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372324870	chr12:60411057-60411058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559275608	chr12:60411066-60411067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528474282	chr12:60411084-60411085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375744487	chr12:60411158-60411159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11173287	chr12:60411170-60411171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562233474	chr12:60411207-60411208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11173288	chr12:60411263-60411264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551192409	chr12:60411328-60411329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571152112	chr12:60411329-60411330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540184697	chr12:60411337-60411338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145125462	chr12:60411345-60411346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558621405	chr12:60411448-60411449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565642571	chr12:60411469-60411470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534631453	chr12:60411484-60411485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367682793	chr12:60411495-60411496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192251203	chr12:60411499-60411500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574506218	chr12:60411514-60411515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536842724	chr12:60411522-60411523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145000517	chr12:60411526-60411527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371893897	chr12:60411546-60411547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576630586	chr12:60411582-60411583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545651674	chr12:60411584-60411585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375356585	chr12:60411623-60411624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552863863	chr12:60411636-60411637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572873374	chr12:60411655-60411656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542236947	chr12:60411679-60411680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572200930	chr12:60411711-60411712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140947686	chr12:60411726-60411727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531076525	chr12:60411807-60411808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369902499	chr12:60411835-60411836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544476325	chr12:60411836-60411837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540821206	chr12:60411886-60411887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564626179	chr12:60411904-60411905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182753649	chr12:60411917-60411918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185993320	chr12:60411928-60411929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566562154	chr12:60411947-60411948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373020505	chr12:60412016-60412017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191251962	chr12:60412040-60412041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568058544	chr12:60412111-60412112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144682863	chr12:60412113-60412114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556645656	chr12:60412119-60412120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182436428	chr12:60412122-60412123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574558043	chr12:60412131-60412132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11173289	chr12:60412156-60412157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs112176558	chr12:60412186-60412187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	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
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60408800-60420600	Weak transcription	Fetal Intestine Small	intestine
2	chr12:60413200-60414200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:60414200-60418400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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