Variant report

Variant	esv1978153
Chromosome Location	chr2:187390713-187390714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187388812..187391488-chr2:187392591..187395983,4	K562	blood:
2	chr2:187384982..187387074-chr2:187390349..187392108,2	K562	blood:
3	chr2:187390194..187392854-chr2:187410483..187412106,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 50 )

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	rs111281617	chr2:187390713-187390714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
3	chr2:187367200-187396800	Weak transcription	Gastric	stomach
4	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
6	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
8	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
10	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:187377200-187397200	Weak transcription	HUVEC	blood vessel
12	chr2:187379000-187397400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:187381800-187406600	Weak transcription	NHEK	skin
14	chr2:187383000-187397000	Weak transcription	K562	blood
15	chr2:187383400-187397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:187384200-187397800	Weak transcription	A549	lung
17	chr2:187386200-187392600	Weak transcription	Thymus	Thymus
18	chr2:187386200-187395800	Weak transcription	NH-A	brain
19	chr2:187386200-187397000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:187386200-187397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:187386200-187398400	Weak transcription	Liver	Liver
22	chr2:187386200-187405200	Weak transcription	HSMM	muscle
23	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:187386800-187392000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:187386800-187397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:187386800-187397400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:187386800-187397600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:187387000-187390800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:187387000-187395600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:187387200-187391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:187387200-187397400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:187387400-187397600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:187388000-187399000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:187389400-187396200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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