Variant report

Variant	rs627823
Chromosome Location	chr7:124729374-124729375
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124728103..124730281-chr7:124737035..124739420,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1020629	0.93[CHB][hapmap]
rs10256073	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs10266152	0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs10269342	0.89[YRI][hapmap]
rs1031952	0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.97[ASN][1000 genomes]
rs10500102	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs10954061	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs11761435	0.93[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap]
rs11771004	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs11771079	0.93[CHB][hapmap]
rs1248737	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs12531213	0.90[ASN][1000 genomes]
rs12706627	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs13234634	0.86[YRI][hapmap]
rs1383749	0.93[YRI][hapmap]
rs1404897	0.93[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap]
rs1471570	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs1481334	0.81[ASN][1000 genomes]
rs1525620	0.83[CHB][hapmap]
rs1552116	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap]
rs1552117	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap]
rs1568882	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17147723	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs17147889	0.93[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2929321	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2929322	0.94[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2968868	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34246481	0.93[CHB][hapmap]
rs585988	0.91[EUR][1000 genomes]
rs590516	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs598102	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612391	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs625037	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs650653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651988	0.94[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs659269	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs663056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664062	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs669273	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670910	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs671359	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6965957	0.92[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap]
rs6966054	0.84[JPT][hapmap]
rs7797011	0.93[CHB][hapmap]
rs967297	0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs9785002	0.93[CHB][hapmap]
rs9942625	0.92[CHB][hapmap]

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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv889139	chr7:124600505-124767295	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv464708	chr7:124703756-124805279	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608344	chr7:124703756-124805279	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124728200-124729800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:124728400-124730000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:124728400-124730000	Enhancers	NHEK	skin
4	chr7:124728600-124730800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:124728600-124731200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:124729000-124731200	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links