Variant report

Variant	esv2124042
Chromosome Location	chr2:40324469-40324473
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	chr2:40322332..40325510-chr2:40329886..40332730,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227028	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 61 )

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	rs71919196	chr2:40324469-40324470	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376385462	chr2:40324471-40324472	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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	22495311	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
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40320000-40325600	Enhancers	HSMMtube	muscle
2	chr2:40320000-40325800	Enhancers	NHLF	lung
3	chr2:40320000-40326600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:40320000-40332200	Enhancers	HSMM	muscle
5	chr2:40320000-40332600	Enhancers	NHDF-Ad	bronchial
6	chr2:40320200-40325000	Enhancers	Fetal Heart	heart
7	chr2:40321000-40326000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:40321200-40326400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:40321200-40327600	Weak transcription	Fetal Intestine Large	intestine
10	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
11	chr2:40321400-40327000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:40321600-40325200	Enhancers	NHEK	skin
13	chr2:40321800-40324800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:40321800-40325200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:40321800-40325600	Enhancers	HMEC	breast
16	chr2:40322000-40324800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:40322000-40325400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:40322000-40330200	Enhancers	NH-A	brain
19	chr2:40322200-40324600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:40322200-40330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:40322400-40324800	Enhancers	A549	lung
22	chr2:40322400-40329600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:40322600-40330200	Weak transcription	Hela-S3	cervix
24	chr2:40322800-40329600	Weak transcription	Fetal Lung	lung
25	chr2:40322800-40350200	Weak transcription	Fetal Brain Male	brain
26	chr2:40323000-40324600	Weak transcription	Dnd41	blood
27	chr2:40323400-40327200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:40323400-40328000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:40323400-40332600	Enhancers	Osteobl	bone
30	chr2:40323600-40330000	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:40323800-40324600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:40323800-40326400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:40324000-40328800	Weak transcription	Ovary	ovary
34	chr2:40324400-40324800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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