Variant report

Variant	esv3403259
Chromosome Location	chr3:70093612-70094860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575687840	chr3:70093618-70093619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375824346	chr3:70093662-70093663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13094951	chr3:70093722-70093723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574647350	chr3:70093750-70093751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537786084	chr3:70093898-70093899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149039129	chr3:70093937-70093938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573305440	chr3:70094111-70094112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560102695	chr3:70094115-70094116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28690372	chr3:70094137-70094138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201603434	chr3:70094156-70094157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199778840	chr3:70094160-70094161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545468773	chr3:70094194-70094195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562287286	chr3:70094195-70094196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533411428	chr3:70094202-70094203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536126269	chr3:70094212-70094213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190807800	chr3:70094215-70094216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181957482	chr3:70094228-70094229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67019519	chr3:70094239-70094240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377201698	chr3:70094269-70094270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372919688	chr3:70094279-70094280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561583832	chr3:70094293-70094294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375822007	chr3:70094300-70094301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530350615	chr3:70094310-70094311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547137922	chr3:70094311-70094312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542870921	chr3:70094315-70094316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144831686	chr3:70094332-70094333	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs539264773	chr3:70094333-70094334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545220596	chr3:70094351-70094352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190390543	chr3:70094397-70094398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569383047	chr3:70094430-70094431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199922211	chr3:70094474-70094475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538195413	chr3:70094478-70094479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561179973	chr3:70094479-70094480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372377913	chr3:70094567-70094568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143043249	chr3:70094568-70094569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574640752	chr3:70094571-70094572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533828157	chr3:70094609-70094610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9310181	chr3:70094661-70094662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs201473581	chr3:70094662-70094663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9812459	chr3:70094663-70094664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545631431	chr3:70094667-70094668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182585440	chr3:70094737-70094738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185611940	chr3:70094744-70094745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70063800-70098000	Weak transcription	Aorta	Aorta
2	chr3:70091000-70093800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:70092000-70105000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:70092400-70093800	Enhancers	Brain Germinal Matrix	brain
5	chr3:70092800-70093800	Enhancers	Brain Hippocampus Middle	brain
6	chr3:70093200-70093800	Enhancers	Brain Angular Gyrus	brain
7	chr3:70093600-70093800	Enhancers	Brain Anterior Caudate	brain
8	chr3:70093600-70098800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:70093800-70099000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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