Variant report

Variant	esv1624558
Chromosome Location	chr2:234939088-234939089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 60 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146992317	chr2:234939088-234939089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376108320	chr2:234939089-234939090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234934600-234939600	Weak transcription	NHEK	skin
2	chr2:234934600-234940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:234934800-234939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:234934800-234942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:234935600-234940000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:234935800-234939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:234935800-234940400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:234935800-234940400	Weak transcription	HUVEC	blood vessel
9	chr2:234935800-234940800	Weak transcription	HSMM	muscle
10	chr2:234936600-234939600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:234937000-234939200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:234937200-234939400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:234937400-234939600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:234937400-234939800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:234937600-234939400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:234937600-234939600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:234937800-234942200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:234938000-234942000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:234938200-234939400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:234938400-234939800	Weak transcription	HMEC	breast
21	chr2:234938400-234940000	Weak transcription	NH-A	brain
22	chr2:234938600-234939800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:234938800-234939200	Weak transcription	NHDF-Ad	bronchial
24	chr2:234938800-234939800	Weak transcription	A549	lung
25	chr2:234939000-234942000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:234939000-234942200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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