Variant report

Variant	rs1030172
Chromosome Location	chr5:106489537-106489538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10043144	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10043242	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060196	0.82[ASN][1000 genomes]
rs1030173	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1030174	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515368	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10900898	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11242625	0.83[ASN][1000 genomes]
rs11242627	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1159077	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1159078	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11749835	0.88[ASN][1000 genomes]
rs12522490	0.84[ASN][1000 genomes]
rs12522515	0.84[ASN][1000 genomes]
rs12658379	0.87[ASN][1000 genomes]
rs1345636	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1345637	0.81[ASN][1000 genomes]
rs1363313	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1549175	0.80[ASN][1000 genomes]
rs17384663	0.87[ASN][1000 genomes]
rs17386596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1833606	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1990908	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2161234	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2410933	0.89[ASN][1000 genomes]
rs2410940	0.81[ASN][1000 genomes]
rs2410941	0.86[ASN][1000 genomes]
rs2410942	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2410943	0.82[ASN][1000 genomes]
rs2410944	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2410945	0.82[ASN][1000 genomes]
rs2410946	0.80[ASN][1000 genomes]
rs2410947	0.82[ASN][1000 genomes]
rs2410948	0.82[ASN][1000 genomes]
rs2410949	0.82[ASN][1000 genomes]
rs2410951	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2410952	0.81[ASN][1000 genomes]
rs2410979	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2898604	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35814230	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4245993	0.82[ASN][1000 genomes]
rs4631165	0.81[ASN][1000 genomes]
rs4637535	0.82[ASN][1000 genomes]
rs4957531	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4957687	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4957688	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957690	0.83[ASN][1000 genomes]
rs55689542	0.85[ASN][1000 genomes]
rs6596719	0.81[ASN][1000 genomes]
rs6596720	0.82[ASN][1000 genomes]
rs6596721	0.82[ASN][1000 genomes]
rs6596722	0.83[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs6862257	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6862498	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6865431	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6871050	0.84[ASN][1000 genomes]
rs6871532	0.82[ASN][1000 genomes]
rs6878038	0.90[ASN][1000 genomes]
rs6892104	0.84[ASN][1000 genomes]
rs6895080	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7706390	0.82[ASN][1000 genomes]
rs7710297	0.84[ASN][1000 genomes]
rs7710595	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7716820	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7733658	0.83[ASN][1000 genomes]
rs7736860	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv599332	chr5:106403516-106502006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2752056	chr5:106422649-106563101	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106489200-106490800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:106489400-106491600	Enhancers	Fetal Brain Male	brain

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