Variant report

Variant	rs994502
Chromosome Location	chr10:26500166-26500167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:26499153..26501750-chr10:26505199..26507063,2	K562	blood:

Variant related genes	Relation type
ENSG00000136750	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10508715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11014993	0.90[CHB][hapmap]
rs11014995	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11014996	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015015	0.80[EUR][1000 genomes]
rs11594057	0.81[TSI][hapmap]
rs11819063	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12243037	0.94[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.89[TSI][hapmap];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1330572	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap]
rs1330581	0.81[JPT][hapmap]
rs2236417	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839669	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839670	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2839676	0.82[YRI][hapmap]
rs3758446	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781108	0.93[TSI][hapmap]
rs3781113	0.93[TSI][hapmap]
rs4144102	0.93[TSI][hapmap]
rs4749100	0.80[EUR][1000 genomes]
rs4749108	0.93[TSI][hapmap]
rs61839365	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7071922	0.84[ASN][1000 genomes]
rs7072136	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7073982	0.91[JPT][hapmap]
rs7076544	0.80[CEU][hapmap];0.84[CHB][hapmap]
rs8190582	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8190598	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8190647	0.85[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8190706	0.86[CEU][hapmap]
rs8190754	0.93[TSI][hapmap]
rs8190809	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs994502	ABI1	cis	parietal	SCAN
rs994502	COMMD3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26498800-26500600	Enhancers	Brain Germinal Matrix	brain
2	chr10:26499600-26500600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr10:26499600-26500800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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