Variant report

Variant	esv2532066
Chromosome Location	chr2:37803990-37803990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37799670..37802467-chr2:37802654..37804539,2	MCF-7	breast:
2	chr2:37795029..37797811-chr2:37802354..37805859,3	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34767184	chr2:37803990-37803991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37796400-37809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:37796600-37810200	Weak transcription	Pancreas	Pancrea
3	chr2:37798400-37804200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:37798600-37806400	Weak transcription	K562	blood
5	chr2:37799200-37812400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:37801400-37804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:37801400-37807600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:37801600-37804200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:37801600-37804200	Weak transcription	Hela-S3	cervix
10	chr2:37801600-37804200	Weak transcription	NH-A	brain
11	chr2:37801600-37804200	Weak transcription	NHDF-Ad	bronchial
12	chr2:37801600-37804200	Weak transcription	NHLF	lung
13	chr2:37801600-37806200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:37801600-37809600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:37801800-37804200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:37802000-37804200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:37802000-37812400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:37803600-37804600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:37803600-37804600	Enhancers	Osteobl	bone
20	chr2:37803600-37804800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:37803600-37805200	Enhancers	HMEC	breast
22	chr2:37803800-37804400	Enhancers	NHEK	skin
23	chr2:37803800-37804600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:37803800-37804800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:37803800-37804800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:37803800-37804800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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