Variant report

Variant	rs7518525
Chromosome Location	chr1:186594979-186594980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10489396	0.81[ASN][1000 genomes]
rs10798051	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911877	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10911878	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10911888	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10911890	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911892	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911895	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911898	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11580808	0.85[EUR][1000 genomes]
rs11582183	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11805124	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12087470	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12093901	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12728706	0.81[EUR][1000 genomes]
rs12731687	0.80[ASN][1000 genomes]
rs12739643	0.80[ASN][1000 genomes]
rs12750371	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16825675	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1799957	0.81[EUR][1000 genomes]
rs1929092	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2024761	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2180167	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2207727	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2383508	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2383512	0.82[ASN][1000 genomes]
rs2383513	0.80[ASN][1000 genomes]
rs34396375	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35643079	0.81[EUR][1000 genomes]
rs36105782	0.81[EUR][1000 genomes]
rs3844242	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3901950	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4140433	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4567244	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59547074	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6425035	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6425038	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6659683	0.82[AMR][1000 genomes]
rs6666413	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6666813	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6672836	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6675505	0.80[EUR][1000 genomes]
rs6677346	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6680252	0.83[EUR][1000 genomes]
rs6689065	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6689727	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6694957	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7536199	0.82[AMR][1000 genomes]
rs7539054	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7556360	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186587800-186596200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:186588200-186595800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:186591200-186595200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:186591200-186596200	Weak transcription	Osteobl	bone
5	chr1:186591800-186596200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:186592600-186602000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:186592800-186597000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:186593200-186600200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:186594800-186595600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:186594800-186595800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:186594800-186596200	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:186594800-186596600	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:186594800-186596600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:186594800-186596800	Enhancers	HUVEC	blood vessel
15	chr1:186594800-186597400	Enhancers	Colon Smooth Muscle	Colon

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