Variant report

Variant	rs7295724
Chromosome Location	chr12:33173719-33173720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1032702	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1032703	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1032704	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10844411	0.89[EUR][1000 genomes]
rs10844428	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11052385	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11052390	0.97[EUR][1000 genomes]
rs11052399	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11052409	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11052413	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11608737	0.95[EUR][1000 genomes]
rs1353934	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1353935	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1500073	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1846638	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1909610	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1909611	0.96[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35969824	0.83[EUR][1000 genomes]
rs4318054	0.89[CEU][hapmap];0.82[CHB][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs4931672	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4931675	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6488115	0.87[EUR][1000 genomes]
rs7305797	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs7305861	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306057	0.96[CEU][hapmap];0.82[CHB][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7306202	0.86[EUR][1000 genomes]
rs7315188	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7977438	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977579	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs904640	0.96[CEU][hapmap];0.82[CHB][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9738114	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9739928	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs985876	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs985877	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1039909	chr12:33132909-33244419	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1053849	chr12:33132909-33279169	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7295724	H3F3C	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33172200-33175000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:33173600-33173800	Enhancers	NHEK	skin

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