Variant report

Variant	rs7974630
Chromosome Location	chr12:118877253-118877254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1013641	0.91[EUR][1000 genomes]
rs1503770	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17625679	0.84[EUR][1000 genomes]
rs1971322	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2062522	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34365267	0.91[EUR][1000 genomes]
rs404566	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs4304821	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4366521	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484838	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap]
rs492939	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap]
rs503548	1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs523011	0.90[CHB][hapmap]
rs55957752	0.89[EUR][1000 genomes]
rs571113	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs575121	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs58833755	0.91[EUR][1000 genomes]
rs60840022	0.84[EUR][1000 genomes]
rs7136004	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307953	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7316527	0.85[EUR][1000 genomes]
rs7795	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7952833	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966814	0.91[EUR][1000 genomes]
rs7970613	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980279	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955134	0.87[EUR][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	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7974630	MAPK8IP2	trans	parietal	SCAN
rs7974630	IQCD	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118871200-118881800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:118876000-118877800	Weak transcription	NHDF-Ad	bronchial
3	chr12:118876000-118879800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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