Variant report

Variant	rs12403636
Chromosome Location	chr1:192637999-192638000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10754022	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10754023	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10801140	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10921229	0.92[CEU][hapmap]
rs10921232	0.85[ASN][1000 genomes]
rs10921233	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10921234	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10921237	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10921238	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11576197	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12037932	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12042114	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12118386	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1933705	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1933706	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1933712	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1933713	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1933714	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1933715	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2104248	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2146607	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2181445	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2208960	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296020	0.89[CEU][hapmap];0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2296021	0.92[CEU][hapmap]
rs2369892	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6695451	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6699054	0.95[EUR][1000 genomes]
rs6702192	0.86[EUR][1000 genomes]
rs7540755	0.98[EUR][1000 genomes]
rs7549322	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9287126	0.92[CEU][hapmap]
rs961480	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192637400-192638000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:192637400-192638000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:192637400-192638000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:192637400-192638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:192637400-192638000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:192637400-192638000	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:192637400-192638200	Enhancers	Fetal Intestine Large	intestine
8	chr1:192637400-192638200	ZNF genes & repeats	Pancreas	Pancrea
9	chr1:192637600-192638000	Flanking Active TSS	HepG2	liver
10	chr1:192637800-192638000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr1:192637800-192638200	Active TSS	A549	lung

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