Variant report

Variant	rs7927570
Chromosome Location	chr11:86736525-86736526
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10466732	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10751146	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10792898	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10792899	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12790462	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1378879	0.84[CHD][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs1551503	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1963952	0.87[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2034848	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2445575	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445586	0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs2445589	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2512330	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2512332	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2512356	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2512365	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2512367	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513210	0.95[MEX][hapmap]
rs2513212	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2513214	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513215	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2513216	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2513228	0.80[MEX][hapmap]
rs2513240	0.95[MEX][hapmap]
rs3133317	0.80[EUR][1000 genomes]
rs3133361	0.89[EUR][1000 genomes]
rs4245428	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4245429	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4245430	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4944662	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71460024	0.83[AMR][1000 genomes]
rs7943307	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7943346	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7943831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7949018	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs921873	0.83[AMR][1000 genomes]
rs991773	0.91[AMR][1000 genomes];0.92[EUR][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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv975960	chr11:86735786-86740095	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7927570	TMEM126A	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86731400-86737800	Weak transcription	Fetal Heart	heart
2	chr11:86731800-86748200	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:86732400-86739400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:86732600-86738800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:86734200-86737400	Weak transcription	Left Ventricle	heart
6	chr11:86734400-86739600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:86735800-86748200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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