Variant report

Variant	rs2048170
Chromosome Location	chr2:73091668-73091669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73003057..73004812-chr2:73090975..73092773,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10211019	0.90[EUR][1000 genomes]
rs1027848	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496186	0.92[CEU][hapmap]
rs10865393	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126385	0.93[EUR][1000 genomes]
rs1150500	1.00[CEU][hapmap]
rs1161265	1.00[CEU][hapmap]
rs1161267	1.00[CEU][hapmap]
rs11684985	0.85[CEU][hapmap]
rs11894160	0.93[EUR][1000 genomes]
rs12474728	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622275	0.97[EUR][1000 genomes]
rs12713775	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12989141	0.93[EUR][1000 genomes]
rs12996406	0.92[CEU][hapmap]
rs13035731	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567230	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995734	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs2048171	0.92[CEU][hapmap]
rs2135985	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420880	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420881	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420883	0.97[EUR][1000 genomes]
rs2421095	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4321391	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852298	0.91[CEU][hapmap]
rs4852893	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4852902	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546782	0.92[CEU][hapmap]
rs6546783	0.92[CEU][hapmap]
rs6546786	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546788	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546789	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546790	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546791	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546792	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730083	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6739002	0.93[EUR][1000 genomes]
rs6750740	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6758431	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758542	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571064	0.84[CEU][hapmap]
rs7580268	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7586787	0.93[EUR][1000 genomes]
rs7588602	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7592155	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs925146	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925147	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925148	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990569	0.91[CEU][hapmap]

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	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73090400-73091800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:73090400-73091800	Weak transcription	NHEK	skin
3	chr2:73090400-73092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:73090400-73092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:73090400-73092000	Weak transcription	HMEC	breast
6	chr2:73090400-73092200	Weak transcription	Hela-S3	cervix
7	chr2:73090600-73091800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links