Variant report

Variant	esv3360153
Chromosome Location	chr5:74442618-74443122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191326734	chr5:74442656-74442657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573539643	chr5:74442701-74442702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183754401	chr5:74442748-74442749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559177609	chr5:74442756-74442757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376513781	chr5:74442770-74442771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145392185	chr5:74442775-74442776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548170789	chr5:74442795-74442796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186988638	chr5:74442820-74442821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565024802	chr5:74442843-74442844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148791722	chr5:74442917-74442918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550567797	chr5:74442918-74442919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6888707	chr5:74442920-74442921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142423057	chr5:74442938-74442939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6893216	chr5:74442964-74442965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs533947423	chr5:74443059-74443060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200736771	chr5:74443063-74443064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558630872	chr5:74443068-74443069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370259413	chr5:74443088-74443089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569073393	chr5:74443092-74443093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113352474	chr5:74443121-74443122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74439600-74449000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:74440400-74448000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:74441600-74443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:74441800-74443400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr5:74441800-74443800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:74441800-74444600	Enhancers	Primary T cells from cord blood	blood
7	chr5:74441800-74444600	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:74442000-74442800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr5:74442000-74443200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:74442000-74443200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:74442200-74443000	Enhancers	Thymus	Thymus
12	chr5:74442200-74443200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:74442200-74443200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:74442400-74443800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:74442600-74442800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:74442600-74443600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:74442600-74443800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:74442600-74443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:74443000-74444000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:74443000-74444000	Weak transcription	Thymus	Thymus

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