Variant report

Variant	rs1970985
Chromosome Location	chr12:120084000-120084001
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120082987..120084520-chr12:120095667..120097801,2	K562	blood:
2	chr12:120081733..120084388-chr12:120086601..120089143,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10732608	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10774507	0.86[ASN][1000 genomes]
rs10774509	0.87[ASN][1000 genomes]
rs10849685	0.86[ASN][1000 genomes]
rs11064856	0.86[ASN][1000 genomes]
rs11064861	0.83[ASN][1000 genomes]
rs11064864	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1123790	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1154836	0.86[ASN][1000 genomes]
rs12309592	0.81[EUR][1000 genomes]
rs1319529	0.86[ASN][1000 genomes]
rs1858982	0.86[ASN][1000 genomes]
rs1985793	0.80[EUR][1000 genomes]
rs2078938	0.86[ASN][1000 genomes]
rs2188711	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2301653	0.86[ASN][1000 genomes]
rs2301654	0.86[ASN][1000 genomes]
rs2301655	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2393549	0.81[EUR][1000 genomes]
rs2893805	0.84[ASN][1000 genomes]
rs2893806	0.81[EUR][1000 genomes]
rs4766944	0.86[ASN][1000 genomes]
rs4766945	0.86[ASN][1000 genomes]
rs4767834	0.86[ASN][1000 genomes]
rs4767835	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4767836	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767838	0.82[EUR][1000 genomes]
rs6490260	0.86[ASN][1000 genomes]
rs6490261	0.86[ASN][1000 genomes]
rs6490264	0.82[EUR][1000 genomes]
rs7138785	0.86[ASN][1000 genomes]
rs7955441	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7958547	0.86[ASN][1000 genomes]
rs7959425	0.87[ASN][1000 genomes]
rs7969977	0.81[EUR][1000 genomes]
rs9668717	0.81[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	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120083600-120094400	Weak transcription	HSMM	muscle

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