Variant report

Variant	esv3359420
Chromosome Location	chr5:147571871-147572213
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	chr5:147569510..147572351-chr5:147602489..147604362,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148893988	chr5:147571885-147571886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67008048	chr5:147571886-147571887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397702477	chr5:147571890-147571891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201341639	chr5:147571891-147571892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201702398	chr5:147571893-147571894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142399961	chr5:147571914-147571915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144598857	chr5:147571948-147571949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28459444	chr5:147571949-147571950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149424355	chr5:147571957-147571958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28406596	chr5:147571984-147571985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs28667181	chr5:147571993-147571994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs55941580	chr5:147572020-147572021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556556103	chr5:147572022-147572023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11454373	chr5:147572023-147572024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553798709	chr5:147572051-147572052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7726411	chr5:147572052-147572053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374772400	chr5:147572055-147572056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545939230	chr5:147572077-147572078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557679867	chr5:147572083-147572084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565788364	chr5:147572102-147572103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575922952	chr5:147572115-147572116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543446390	chr5:147572164-147572165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs118106269	chr5:147572172-147572173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573762558	chr5:147572177-147572178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372846452	chr5:147572186-147572187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147567200-147572000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:147567200-147572200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:147567200-147572200	Weak transcription	Hela-S3	cervix
4	chr5:147567400-147572000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:147571400-147572000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:147571400-147572800	Enhancers	HMEC	breast
7	chr5:147571800-147572200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:147572000-147572800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:147572000-147572800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:147572000-147572800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:147572200-147572600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:147572200-147572800	Enhancers	NHEK	skin
13	chr5:147572200-147573200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:147572200-147573200	Enhancers	Hela-S3	cervix
15	chr5:147572200-147582000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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