Variant report

Variant	esv1082067
Chromosome Location	chr2:160964725-160964737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:160963372..160965662-chr2:161085963..161088165,2	MCF-7	breast:
2	chr2:160955602..160957276-chr2:160963515..160965227,2	MCF-7	breast:
3	chr2:160964286..160967312-chr2:161082194..161085973,4	MCF-7	breast:
4	chr2:160964387..160968256-chr2:161077211..161080822,5	MCF-7	breast:

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	rs71408112	chr2:160964726-160964727	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Epilepsy	21204806	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160950800-160967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:160953200-160970800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:160954600-160970800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:160954600-160993000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:160954800-160966200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:160955400-160965000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:160955800-160968800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:160956200-160965600	Strong transcription	HMEC	breast
9	chr2:160957000-160970200	Weak transcription	Pancreas	Pancrea
10	chr2:160957400-160981200	Weak transcription	Lung	lung
11	chr2:160958400-160965200	Strong transcription	NHEK	skin
12	chr2:160959200-161004200	Weak transcription	Gastric	stomach
13	chr2:160959400-160985200	Weak transcription	Esophagus	oesophagus
14	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
15	chr2:160959800-160965800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:160960000-160966400	Weak transcription	HSMMtube	muscle
17	chr2:160960400-160965600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:160961000-160965600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:160962000-160966200	Strong transcription	HSMM	muscle
20	chr2:160962400-160970800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:160962800-160971000	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr2:160963800-160969200	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:160964200-160993600	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:160964400-160965800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:160964400-160967000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:160964400-160993600	Weak transcription	Fetal Intestine Large	intestine
27	chr2:160964600-160965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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