Variant report

Variant	esv3359948
Chromosome Location	chr12:41986035-41989833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11181025	chr12:41986036-41986037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578141737	chr12:41986057-41986058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539283119	chr12:41986107-41986108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193088897	chr12:41986108-41986109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138043407	chr12:41986156-41986157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143701818	chr12:41986188-41986189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543723820	chr12:41986211-41986212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564456109	chr12:41986288-41986289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1495779	chr12:41986314-41986315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1495778	chr12:41986343-41986344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs540618006	chr12:41986351-41986352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559072083	chr12:41986355-41986356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184462326	chr12:41986362-41986363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs287029	chr12:41986385-41986386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563926905	chr12:41986388-41986389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34668802	chr12:41986396-41986397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4429126	chr12:41986397-41986398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7968709	chr12:41986451-41986452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147219505	chr12:41986482-41986483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546993945	chr12:41986486-41986487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34721835	chr12:41986495-41986496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551629075	chr12:41986565-41986566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73115897	chr12:41986576-41986577	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539139192	chr12:41986579-41986580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557149253	chr12:41986663-41986664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188466646	chr12:41986667-41986668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138990850	chr12:41986720-41986721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12811396	chr12:41986766-41986767	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41985000-41986400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr12:41985000-41986800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:41986200-41986400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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