Variant report

Variant	esv3349354
Chromosome Location	chr2:40446908-40447093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554300933	chr2:40446929-40446930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79236643	chr2:40446946-40446947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373306509	chr2:40446947-40446948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386645232	chr2:40446948-40446949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374526557	chr2:40446949-40446950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368760291	chr2:40446950-40446951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13432491	chr2:40447045-40447046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374516357	chr2:40447055-40447056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572651759	chr2:40447072-40447073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367982800	chr2:40447073-40447074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546513685	chr2:40447079-40447080	Enhancers Weak transcription	n/a	n/a	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40437200-40453200	Weak transcription	Right Ventricle	heart
3	chr2:40438000-40447200	Weak transcription	Fetal Brain Male	brain
4	chr2:40440600-40447400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:40441600-40447400	Weak transcription	Left Ventricle	heart
6	chr2:40445000-40447400	Weak transcription	NHLF	lung
7	chr2:40445200-40448200	Enhancers	Fetal Heart	heart
8	chr2:40445600-40448200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:40445800-40447800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:40445800-40447800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr2:40445800-40448000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:40445800-40448200	Enhancers	Colon Smooth Muscle	Colon
13	chr2:40446000-40447600	Enhancers	HSMMtube	muscle
14	chr2:40446000-40448000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:40446000-40448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:40446000-40448000	Enhancers	Osteobl	bone
17	chr2:40446000-40448200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:40446000-40448200	Enhancers	HSMM	muscle
19	chr2:40446200-40447200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:40446200-40447400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:40446200-40447400	Weak transcription	Brain Germinal Matrix	brain
22	chr2:40446200-40447400	Weak transcription	Fetal Kidney	kidney
23	chr2:40446200-40447400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:40446200-40448000	Enhancers	NHDF-Ad	bronchial
25	chr2:40446400-40447400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:40446400-40447400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:40446400-40447400	Weak transcription	Ovary	ovary
28	chr2:40446400-40447400	Weak transcription	HMEC	breast
29	chr2:40446400-40454400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:40446400-40455400	Weak transcription	Psoas Muscle	Psoas
31	chr2:40446600-40447000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:40446600-40447000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:40446600-40447000	Weak transcription	Fetal Lung	lung
34	chr2:40446600-40447000	Weak transcription	Fetal Stomach	stomach
35	chr2:40446600-40447000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:40446800-40447200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:40446800-40447400	Weak transcription	Brain Anterior Caudate	brain
38	chr2:40447000-40447800	Enhancers	Fetal Lung	lung
39	chr2:40447000-40448000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:40447000-40448000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:40447000-40448000	Enhancers	Fetal Stomach	stomach
42	chr2:40447000-40448000	Enhancers	Rectal Smooth Muscle	rectum

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