Variant report

Variant	rs7545835
Chromosome Location	chr1:180092518-180092519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10913916	0.95[CEU][hapmap]
rs11810556	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12091685	0.82[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12094391	0.96[ASN][1000 genomes]
rs17371566	0.83[CHB][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs1981314	0.95[CEU][hapmap];0.93[GIH][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2319676	0.83[JPT][hapmap]
rs2319677	0.92[JPT][hapmap]
rs2319773	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2477107	0.82[EUR][1000 genomes]
rs2477119	0.95[CEU][hapmap]
rs2501621	0.95[CEU][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap]
rs3123521	0.84[EUR][1000 genomes]
rs3753814	0.85[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs3767201	0.95[CEU][hapmap]
rs4147170	0.92[JPT][hapmap]
rs4263962	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4604657	0.93[ASN][1000 genomes]
rs4622030	0.92[JPT][hapmap]
rs4651055	0.95[CEU][hapmap];0.93[GIH][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4652464	0.95[EUR][1000 genomes]
rs4652470	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4652476	0.86[ASN][1000 genomes]
rs55953436	0.93[ASN][1000 genomes]
rs55971224	0.94[ASN][1000 genomes]
rs56279106	0.91[ASN][1000 genomes]
rs6425606	0.83[CHB][hapmap];0.82[CHD][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs6425607	0.83[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs6659911	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6660984	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6682558	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs6692394	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72710681	0.84[ASN][1000 genomes]
rs7412536	0.81[EUR][1000 genomes]
rs7518534	0.82[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7544467	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7547954	0.94[ASN][1000 genomes]
rs7548486	0.94[ASN][1000 genomes]
rs9425483	0.87[CEU][hapmap];0.84[GIH][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9425852	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9425857	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9425858	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9425859	0.91[CEU][hapmap];0.93[GIH][hapmap];0.82[LWK][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9887843	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv872573	chr1:179929388-180093066	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv520278	chr1:179945390-180093066	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180084000-180096000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:180084800-180094000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:180086600-180100800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:180086600-180102400	Weak transcription	Pancreas	Pancrea
5	chr1:180087000-180097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:180087200-180092600	Weak transcription	K562	blood
7	chr1:180087200-180095600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:180087200-180095600	Weak transcription	Stomach Mucosa	stomach
9	chr1:180087200-180097000	Weak transcription	Lung	lung
10	chr1:180087200-180097400	Weak transcription	Esophagus	oesophagus
11	chr1:180087600-180092800	Weak transcription	Hela-S3	cervix
12	chr1:180087800-180092600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:180089200-180097400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:180089800-180095200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:180091800-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:180092200-180093000	Enhancers	NHDF-Ad	bronchial
17	chr1:180092200-180093200	Enhancers	NHEK	skin
18	chr1:180092400-180093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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