Variant report

Variant	rs7926999
Chromosome Location	chr11:57703762-57703763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10792118	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10896644	0.84[YRI][hapmap]
rs1113095	0.88[EUR][1000 genomes]
rs11229170	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11229171	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11229172	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11229173	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11229183	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11570176	0.84[YRI][hapmap]
rs11570181	0.84[YRI][hapmap]
rs12366063	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12420220	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1510418	0.92[EUR][1000 genomes]
rs17455422	0.84[YRI][hapmap]
rs34419144	0.84[AMR][1000 genomes]
rs35241049	0.92[EUR][1000 genomes]
rs35994197	0.83[AMR][1000 genomes]
rs4245215	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs588713	0.80[AMR][1000 genomes]
rs591322	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs600488	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs602861	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs606731	0.81[EUR][1000 genomes]
rs615133	0.89[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs616911	0.89[CEU][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs633129	0.89[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs652191	0.86[YRI][hapmap]
rs653889	0.84[YRI][hapmap]
rs6591443	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs662638	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7119973	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7120868	0.84[YRI][hapmap]
rs7943793	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7926999	YPEL4	cis	lung	GTEx
rs7926999	TIMM10	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57702600-57706200	Enhancers	HepG2	liver
2	chr11:57703000-57704000	Enhancers	A549	lung
3	chr11:57703400-57707600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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