Variant report

Variant	esv1577460
Chromosome Location	chr2:190397570-190397695
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	chr2:190397457..190400207-chr2:190405459..190407233,2	MCF-7	breast:
2	chr2:190393193..190396914-chr2:190397401..190400008,4	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184809317	chr2:190397571-190397572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs5837149	chr2:190397583-190397584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59054046	chr2:190397586-190397587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4998361	chr2:190397589-190397590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61701338	chr2:190397601-190397602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373589662	chr2:190397603-190397604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2028365	chr2:190397632-190397633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372707904	chr2:190397644-190397645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375948082	chr2:190397672-190397673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369654213	chr2:190397673-190397674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184749700	chr2:190397675-190397676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371940086	chr2:190397688-190397689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71020997	chr2:190397695-190397696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190386600-190398200	Weak transcription	Aorta	Aorta
2	chr2:190392400-190398000	Weak transcription	Stomach Mucosa	stomach
3	chr2:190392400-190398200	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:190392400-190399600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:190392400-190406400	Weak transcription	Small Intestine	intestine
6	chr2:190392600-190397800	Weak transcription	HepG2	liver
7	chr2:190392600-190398000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:190393000-190399400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:190393000-190399800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:190393200-190398000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:190393400-190398200	Weak transcription	Adipose Nuclei	Adipose
12	chr2:190393600-190398000	Weak transcription	HSMM	muscle
13	chr2:190393600-190398200	Weak transcription	Fetal Lung	lung
14	chr2:190393800-190397800	Weak transcription	HSMMtube	muscle
15	chr2:190393800-190398000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:190393800-190398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:190396200-190398000	Weak transcription	A549	lung
18	chr2:190397000-190400600	Enhancers	Fetal Intestine Small	intestine
19	chr2:190397200-190397600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:190397200-190398200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:190397200-190399200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:190397200-190400400	Enhancers	Fetal Intestine Large	intestine
23	chr2:190397200-190400400	Weak transcription	Psoas Muscle	Psoas
24	chr2:190397400-190397800	Weak transcription	Ovary	ovary
25	chr2:190397400-190398200	Weak transcription	Placenta	Placenta
26	chr2:190397400-190398600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:190397600-190399200	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links