Variant report

Variant	esv3487817
Chromosome Location	chr3:159428986-159429200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202083139	chr3:159428991-159428992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369117152	chr3:159428995-159428996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372863075	chr3:159429001-159429002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376110765	chr3:159429002-159429003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371499601	chr3:159429007-159429008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570851468	chr3:159429011-159429012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12233473	chr3:159429018-159429019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12233474	chr3:159429037-159429038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149876076	chr3:159429144-159429145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376145082	chr3:159429187-159429188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62270363	chr3:159429191-159429192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370871730	chr3:159429194-159429195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159426200-159429600	Weak transcription	Right Ventricle	heart
2	chr3:159428400-159430200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:159428600-159429000	Enhancers	Left Ventricle	heart
4	chr3:159428600-159429400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:159428600-159430200	Enhancers	HMEC	breast
6	chr3:159428600-159430400	Enhancers	HUVEC	blood vessel
7	chr3:159429000-159429200	Enhancers	Fetal Heart	heart
8	chr3:159429000-159429400	Weak transcription	Left Ventricle	heart
9	chr3:159429200-159429400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:159429200-159429400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:159429200-159429400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:159429200-159429400	Enhancers	A549	lung
13	chr3:159429200-159429600	Enhancers	Brain Angular Gyrus	brain
14	chr3:159429200-159429600	Flanking Active TSS	Fetal Heart	heart
15	chr3:159429200-159429600	Enhancers	NHEK	skin
16	chr3:159429200-159429600	Enhancers	NHLF	lung
17	chr3:159429200-159430000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:159429200-159430000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:159429200-159430000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:159429200-159430000	Enhancers	Osteobl	bone
21	chr3:159429200-159430200	Enhancers	NH-A	brain
22	chr3:159429200-159430200	Enhancers	NHDF-Ad	bronchial

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