Variant report

Variant	esv3370183
Chromosome Location	chr2:205547878-205548466
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	chr2:205543850..205546567-chr2:205547015..205549174,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573773629	chr2:205547888-205547889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569597036	chr2:205547934-205547935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536756330	chr2:205548014-205548015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555393731	chr2:205548024-205548025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527901214	chr2:205548055-205548056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568715919	chr2:205548056-205548057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76744273	chr2:205548073-205548074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181099306	chr2:205548180-205548181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572756408	chr2:205548229-205548230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546449099	chr2:205548266-205548267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149249041	chr2:205548276-205548277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185935527	chr2:205548282-205548283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543557654	chr2:205548288-205548289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17637988	chr2:205548298-205548299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558575469	chr2:205548315-205548316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17450407	chr2:205548370-205548371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs78242428	chr2:205548376-205548377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566789520	chr2:205548394-205548395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73984267	chr2:205548400-205548401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78370451	chr2:205548417-205548418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190310197	chr2:205548421-205548422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205543600-205548200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:205545600-205560800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:205546400-205549400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:205546600-205548000	Weak transcription	Liver	Liver
5	chr2:205546600-205551200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:205546600-205551600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:205546800-205550800	Weak transcription	NHDF-Ad	bronchial
8	chr2:205547000-205550200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:205547000-205550800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:205547000-205555000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:205547000-205556400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:205547400-205560000	Weak transcription	HSMMtube	muscle
13	chr2:205547600-205551000	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:205547600-205555000	Weak transcription	HSMM	muscle
15	chr2:205547600-205555400	Weak transcription	Fetal Lung	lung
16	chr2:205547600-205560000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:205547600-205560400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:205547800-205556000	Weak transcription	HUVEC	blood vessel
19	chr2:205548000-205548600	Enhancers	Liver	Liver
20	chr2:205548000-205549000	Enhancers	HepG2	liver
21	chr2:205548200-205549000	Enhancers	Fetal Intestine Small	intestine

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