Variant report

Variant	esv3509368
Chromosome Location	chr12:29160485-29165983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568169301	chr12:29161421-29161422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535563386	chr12:29161437-29161438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145334160	chr12:29161532-29161533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181983599	chr12:29161545-29161546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538045111	chr12:29161624-29161625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569203024	chr12:29161675-29161676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540108615	chr12:29161696-29161697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117588020	chr12:29161741-29161742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573601001	chr12:29161747-29161748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540783404	chr12:29161769-29161770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556002393	chr12:29161799-29161800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150932959	chr12:29161819-29161820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75419024	chr12:29161866-29161867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562481111	chr12:29161915-29161916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185072526	chr12:29161925-29161926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190121409	chr12:29161952-29161953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560161468	chr12:29161968-29161969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551787285	chr12:29162037-29162038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574720678	chr12:29162129-29162130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548726808	chr12:29162163-29162164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1122177	chr12:29162180-29162181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34151209	chr12:29162260-29162261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181762682	chr12:29162275-29162276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550828441	chr12:29162331-29162332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1122176	chr12:29162354-29162355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs111851484	chr12:29165401-29165402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs58625961	chr12:29165427-29165428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191847018	chr12:29165437-29165438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553216149	chr12:29165449-29165450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572969132	chr12:29165494-29165495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572565731	chr12:29165545-29165546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377437335	chr12:29165577-29165578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182140134	chr12:29165583-29165584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531768801	chr12:29165646-29165647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4931127	chr12:29165649-29165650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186742207	chr12:29165693-29165694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532673509	chr12:29165699-29165700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191360114	chr12:29165706-29165707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555246678	chr12:29165709-29165710	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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 promyelocytic leukemia	19109227	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29161400-29162400	Enhancers	HMEC	breast
2	chr12:29161400-29162400	Enhancers	NHEK	skin
3	chr12:29161600-29162400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:29161600-29162400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:29161800-29162400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:29165400-29165800	Enhancers	GM12878-XiMat	blood

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