Variant report

Variant	esv2275161
Chromosome Location	chr2:171990515-171990517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 45 )

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	rs10191270	chr2:171990516-171990517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:45)

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
Cancer	20164919	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:171950600-171991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:171957200-172010400	Weak transcription	HSMM	muscle
4	chr2:171971200-171993000	Weak transcription	Gastric	stomach
5	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:171974000-171996400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:171974000-172003200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:171974000-172003200	Weak transcription	Fetal Thymus	thymus
9	chr2:171974200-171993600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:171974200-171996400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:171974200-172002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:171974400-171992400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:171974400-172003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:171976400-171993400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:171982000-171991600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:171982000-171993400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:171982200-171993000	Weak transcription	Small Intestine	intestine
18	chr2:171984600-172003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:171985600-172006200	Weak transcription	Esophagus	oesophagus
20	chr2:171986400-171995800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:171986400-171996400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:171987200-171993000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:171987400-171993400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:171987400-171999400	Weak transcription	Spleen	Spleen
25	chr2:171987600-171993000	Weak transcription	Stomach Mucosa	stomach
26	chr2:171988000-171991600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:171988400-171999800	Enhancers	HepG2	liver
29	chr2:171988600-171990800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:171988600-171990800	Enhancers	Pancreas	Pancrea
31	chr2:171988600-171990800	Enhancers	Psoas Muscle	Psoas
32	chr2:171988800-171990600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:171988800-171991200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:171989000-171991800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr2:171989200-171991200	Enhancers	K562	blood
36	chr2:171989200-171996600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:171989400-171991200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:171989400-171991200	Weak transcription	A549	lung
39	chr2:171989400-171991600	Enhancers	Liver	Liver
40	chr2:171989400-171993400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:171989400-171994000	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:171989400-172007000	Weak transcription	Lung	lung
43	chr2:171989800-171991200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:171989800-171991800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr2:171989800-171991800	Weak transcription	Osteobl	bone
46	chr2:171989800-171996800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:171990000-171991400	Enhancers	GM12878-XiMat	blood
48	chr2:171990000-171993000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:171990000-171993400	Weak transcription	Placenta	Placenta
50	chr2:171990000-171993400	Weak transcription	Right Atrium	heart

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