Variant report

Variant	esv3363309
Chromosome Location	chr2:39493416-39493577
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	chr2:39484279..39485806-chr2:39491363..39493420,2	MCF-7	breast:
2	chr2:39490995..39493794-chr2:39495082..39499421,5	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115212972	chr2:39493441-39493442	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1861735	chr2:39493456-39493457	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs540183287	chr2:39493483-39493484	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545772181	chr2:39493493-39493494	Weak transcription Enhancers Strong transcription Genic enhancers	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
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
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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39469200-39503800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:39469400-39504200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39471000-39503400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:39471200-39503800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:39471200-39504200	Weak transcription	Esophagus	oesophagus
6	chr2:39471400-39503400	Weak transcription	Right Ventricle	heart
7	chr2:39472600-39504000	Weak transcription	Thymus	Thymus
8	chr2:39473400-39517400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:39474600-39494600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:39474600-39494600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:39475600-39493600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:39475600-39494200	Strong transcription	Placenta	Placenta
13	chr2:39475600-39494400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:39476200-39502400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:39476600-39527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:39477200-39495200	Strong transcription	Liver	Liver
17	chr2:39477600-39496200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:39478600-39543400	Weak transcription	Stomach Mucosa	stomach
19	chr2:39479000-39521200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:39479200-39503400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:39479600-39494600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:39480600-39493600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:39481000-39504200	Weak transcription	Spleen	Spleen
24	chr2:39481000-39580200	Weak transcription	NHEK	skin
25	chr2:39481200-39501800	Weak transcription	Fetal Brain Female	brain
26	chr2:39481200-39503400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:39481400-39504000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:39481800-39499000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:39481800-39499400	Weak transcription	K562	blood
30	chr2:39481800-39503600	Weak transcription	Brain Anterior Caudate	brain
31	chr2:39481800-39503600	Weak transcription	Colonic Mucosa	Colon
32	chr2:39482000-39502200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:39484400-39503400	Weak transcription	Brain Angular Gyrus	brain
34	chr2:39484400-39516400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:39484600-39504000	Weak transcription	Fetal Brain Male	brain
36	chr2:39484800-39494400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:39485200-39503800	Weak transcription	Brain Germinal Matrix	brain
38	chr2:39485200-39504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:39486000-39503400	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:39486400-39503400	Weak transcription	Fetal Heart	heart
41	chr2:39486600-39503600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:39487400-39499400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:39487600-39496800	Weak transcription	HMEC	breast
44	chr2:39487600-39499000	Weak transcription	HUVEC	blood vessel
45	chr2:39487600-39503400	Weak transcription	Lung	lung
46	chr2:39487600-39503400	Weak transcription	Hela-S3	cervix
47	chr2:39487600-39503600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:39487600-39504400	Weak transcription	Gastric	stomach
49	chr2:39487600-39513200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:39487800-39495400	Weak transcription	Fetal Stomach	stomach

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