Variant report

Variant	esv32710
Chromosome Location	chr12:29271055-29273322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533802371	chr12:29271110-29271111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555351595	chr12:29271168-29271169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573911956	chr12:29271210-29271211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369386470	chr12:29271240-29271241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543992473	chr12:29271247-29271248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181783227	chr12:29271286-29271287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577419858	chr12:29271297-29271298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11050047	chr12:29271305-29271306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564619837	chr12:29271306-29271307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528447793	chr12:29271307-29271308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540652460	chr12:29271334-29271335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17706571	chr12:29271392-29271393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529635037	chr12:29271399-29271400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529064023	chr12:29271455-29271456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs5797305	chr12:29271479-29271480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551195598	chr12:29271502-29271503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs726421	chr12:29271522-29271523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533579248	chr12:29271601-29271602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577058674	chr12:29271622-29271623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551471005	chr12:29271677-29271678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566586738	chr12:29271686-29271687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58944561	chr12:29271717-29271718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186455789	chr12:29271719-29271720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567444039	chr12:29271728-29271729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555093446	chr12:29271772-29271773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376844003	chr12:29271804-29271805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs959123	chr12:29271805-29271806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs556048385	chr12:29271952-29271953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561251199	chr12:29271975-29271976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144864634	chr12:29271981-29271982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577383768	chr12:29272030-29272031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538469731	chr12:29272033-29272034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557949697	chr12:29272042-29272043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573323917	chr12:29272068-29272069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7966003	chr12:29272097-29272098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562161872	chr12:29272105-29272106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7966088	chr12:29272131-29272132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1845820	chr12:29272185-29272186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563193671	chr12:29272204-29272205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533541331	chr12:29272211-29272212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560977578	chr12:29272213-29272214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1496220	chr12:29272219-29272220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs575961868	chr12:29272228-29272229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527427315	chr12:29272229-29272230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548808107	chr12:29272246-29272247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549875118	chr12:29272298-29272299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145136748	chr12:29272322-29272323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7301103	chr12:29272487-29272488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549638583	chr12:29272637-29272638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7301704	chr12:29272721-29272722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	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	chr12:29266400-29286400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:29271000-29271600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:29271200-29271600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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