Variant report

Variant	rs690731
Chromosome Location	chr4:122306748-122306749
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122305121..122307560-chr4:122314123..122316320,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10433907	0.81[AMR][1000 genomes]
rs10857080	0.84[CEU][hapmap];0.84[AMR][1000 genomes]
rs11098616	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12499042	0.85[CEU][hapmap];0.84[AMR][1000 genomes]
rs12499677	0.85[CEU][hapmap];0.84[AMR][1000 genomes]
rs12507514	0.84[AMR][1000 genomes]
rs12507798	0.84[AMR][1000 genomes]
rs12642360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13114721	0.84[CEU][hapmap];0.84[AMR][1000 genomes]
rs13132035	0.85[CEU][hapmap];1.00[MEX][hapmap]
rs13144655	0.81[CEU][hapmap]
rs13435217	0.80[ASN][1000 genomes]
rs1513708	0.84[CEU][hapmap];0.81[AMR][1000 genomes]
rs1513712	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1606576	0.83[AMR][1000 genomes]
rs1713902	0.99[ASN][1000 genomes]
rs2013332	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2276957	0.85[CEU][hapmap];0.84[AMR][1000 genomes]
rs2390137	0.84[AMR][1000 genomes]
rs4240259	0.85[CEU][hapmap]
rs4833715	0.84[AMR][1000 genomes]
rs506955	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56031223	1.00[ASN][1000 genomes]
rs6534267	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6534268	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6828201	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7698313	0.84[JPT][hapmap]
rs9759717	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs9759756	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9760672	0.83[ASN][1000 genomes]
rs9761531	0.86[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv508308	chr4:122278897-122312719	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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