Variant report

Variant	esv3353978
Chromosome Location	chr2:37788972-37789366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37781860..37785625-chr2:37786304..37788972,4	K562	blood:
2	chr2:37786608..37790547-chr2:37791244..37795872,7	K562	blood:
3	chr2:37779367..37783955-chr2:37786259..37791654,6	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 58 )

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	rs531156372	chr2:37789028-37789029	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62133462	chr2:37789032-37789033	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567824472	chr2:37789103-37789104	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535034613	chr2:37789251-37789252	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553062604	chr2:37789256-37789257	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571796141	chr2:37789265-37789266	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186894826	chr2:37789287-37789288	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148701962	chr2:37789318-37789319	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142219824	chr2:37789320-37789321	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543593034	chr2:37789343-37789344	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376102945	chr2:37789344-37789345	Flanking Active TSS 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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37781400-37791200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:37782000-37789200	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:37783400-37790800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:37783400-37795600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:37784000-37789400	Enhancers	GM12878-XiMat	blood
6	chr2:37786800-37789000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:37786800-37790200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:37787000-37790200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:37787200-37790400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:37787400-37789200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:37787400-37789200	Enhancers	Adipose Nuclei	Adipose
12	chr2:37787400-37789200	Enhancers	Fetal Thymus	thymus
13	chr2:37787400-37789200	Enhancers	Left Ventricle	heart
14	chr2:37787400-37789200	Enhancers	Ovary	ovary
15	chr2:37787400-37789400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:37787400-37790400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:37787400-37790800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:37787400-37791600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:37787400-37792000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:37787600-37789200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:37787600-37790000	Enhancers	HMEC	breast
22	chr2:37787600-37791000	Enhancers	HUVEC	blood vessel
23	chr2:37787600-37793400	Enhancers	NHDF-Ad	bronchial
24	chr2:37787800-37789000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:37787800-37789200	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:37787800-37789600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr2:37788000-37789200	Enhancers	Colon Smooth Muscle	Colon
28	chr2:37788000-37789600	Enhancers	HSMM	muscle
29	chr2:37788000-37790200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:37788000-37790200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:37788000-37790800	Enhancers	NHEK	skin
32	chr2:37788000-37791400	Enhancers	Osteobl	bone
33	chr2:37788200-37789000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:37788200-37789000	Weak transcription	Fetal Brain Male	brain
35	chr2:37788200-37789000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr2:37788200-37789200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:37788200-37792000	Enhancers	NHLF	lung
38	chr2:37788400-37789000	Weak transcription	Gastric	stomach
39	chr2:37788400-37789000	Weak transcription	Psoas Muscle	Psoas
40	chr2:37788400-37789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:37788400-37789600	Flanking Active TSS	A549	lung
42	chr2:37788400-37789800	Flanking Active TSS	K562	blood
43	chr2:37788400-37794800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:37788600-37789000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:37788600-37789200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:37788600-37789400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:37788600-37791200	Enhancers	Hela-S3	cervix
48	chr2:37788600-37791400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:37788800-37789000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:37788800-37789000	Enhancers	Primary T cells fromperipheralblood	blood

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