Variant report

Variant	rs12700623
Chromosome Location	chr7:25392572-25392573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10807824	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11764103	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11769627	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11972231	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11981869	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12670448	0.81[ASN][1000 genomes]
rs12672062	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672230	0.93[ASN][1000 genomes]
rs12700607	0.93[ASN][1000 genomes]
rs12700608	0.93[ASN][1000 genomes]
rs12700609	0.93[ASN][1000 genomes]
rs12700610	0.81[ASN][1000 genomes]
rs12700611	0.93[ASN][1000 genomes]
rs12700612	0.93[ASN][1000 genomes]
rs12700613	0.93[ASN][1000 genomes]
rs12700614	0.93[ASN][1000 genomes]
rs12700616	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12700617	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700618	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700619	0.84[EUR][1000 genomes]
rs12700620	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700621	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700624	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12700625	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13310680	0.82[EUR][1000 genomes]
rs1988282	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1988283	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2188993	0.83[EUR][1000 genomes]
rs4134095	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6461862	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6461864	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6964890	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7811651	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606424	chr7:24982529-25466521	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv606426	chr7:25254125-25621579	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv887846	chr7:25371700-25407621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25390000-25393600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:25392400-25392800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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