Variant report

Variant	rs12222414
Chromosome Location	chr11:93713911-93713912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93710125..93711813-chr11:93711990..93713968,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11020618	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11605140	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1506658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518561	0.82[EUR][1000 genomes]
rs2135527	0.89[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2256426	0.84[EUR][1000 genomes]
rs2456557	0.84[EUR][1000 genomes]
rs2460038	0.83[EUR][1000 genomes]
rs2460039	0.83[EUR][1000 genomes]
rs2511391	0.84[EUR][1000 genomes]
rs2939619	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2939620	0.94[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2945632	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2945633	0.82[EUR][1000 genomes]
rs2945635	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2945636	0.87[CEU][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2949855	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2949864	0.82[EUR][1000 genomes]
rs2949865	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2949866	0.82[EUR][1000 genomes]
rs2949867	0.89[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2949868	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2949869	0.89[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2949870	0.82[EUR][1000 genomes]
rs3018380	0.89[EUR][1000 genomes]
rs3020005	0.89[CEU][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3020007	0.88[EUR][1000 genomes]
rs59527139	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60833228	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67268439	0.96[EUR][1000 genomes]
rs7113975	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs908752	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs995932	0.89[CEU][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv442	chr11:93665117-93717973	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2757466	chr11:93676224-93714950	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2759854	chr11:93676224-93714950	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv555965	chr11:93713911-93747735	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12222414	ENDOD1	cis	cerebellum	SCAN
rs12222414	GPR83	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93710800-93718600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:93710800-93719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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