Variant report

Variant	rs2932574
Chromosome Location	chr1:151982020-151982021
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151974357..151976309-chr1:151981505..151984353,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1038747	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs10788820	0.81[JPT][hapmap]
rs11204915	0.80[MEX][hapmap]
rs11204922	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12083193	0.86[CHB][hapmap];0.89[TSI][hapmap]
rs12116923	0.85[JPT][hapmap]
rs12410789	0.87[ASN][1000 genomes]
rs13320	0.80[MEX][hapmap]
rs1532133	1.00[CHB][hapmap]
rs16833728	0.81[CHB][hapmap];0.84[TSI][hapmap]
rs16833743	0.86[CHB][hapmap]
rs1979637	0.95[CHB][hapmap]
rs1994606	0.84[ASN][1000 genomes]
rs2279501	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2279502	0.81[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap]
rs2338019	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2932570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932579	0.84[MEX][hapmap]
rs2932590	0.86[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2999526	0.86[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]
rs2999528	0.86[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]
rs2999531	0.91[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs2999534	1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2999539	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999542	0.84[MEX][hapmap]
rs2999544	0.85[MEX][hapmap]
rs2999560	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2999561	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007685	0.84[MEX][hapmap]
rs3007708	0.91[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs3007711	0.85[MEX][hapmap]
rs3791153	0.86[CHB][hapmap]
rs6587635	0.81[CHB][hapmap]
rs6587636	0.81[CHB][hapmap]
rs6587640	0.86[CHB][hapmap];0.84[TSI][hapmap]
rs6662611	0.81[CHB][hapmap]
rs6678672	0.86[CHB][hapmap];0.87[TSI][hapmap]
rs6703465	0.81[CHB][hapmap]
rs7541099	0.81[CHB][hapmap];0.84[TSI][hapmap]
rs902313	0.81[CHB][hapmap];0.84[TSI][hapmap]
rs971887	0.81[CHB][hapmap];0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2932574	S100A10	Cis_1M	lymphoblastoid	RTeQTL
rs2932574	THEM4	cis	Esophagus Muscularis	GTEx
rs2932574	THEM4	cis	multi-tissue	Pritchard
rs2932574	THEM4	Cis_1M	lymphoblastoid	RTeQTL
rs2932574	S100A10	cis	Lymphoblastoid	GTEx
rs2932574	S100A10	cis	multi-tissue	Pritchard

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151976800-151993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:151977000-151986000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:151979600-151983600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:151979600-151984000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:151981400-151983000	Enhancers	Liver	Liver
6	chr1:151981800-151982400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:151982000-151982400	Enhancers	Fetal Intestine Large	intestine
8	chr1:151982000-151982800	Enhancers	Adipose Nuclei	Adipose

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