Variant report

Variant	rs9381697
Chromosome Location	chr6:48742864-48742865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12664992	0.89[EUR][1000 genomes]
rs1317061	0.89[EUR][1000 genomes]
rs13205302	0.89[EUR][1000 genomes]
rs13206024	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1938174	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1938205	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2186208	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28593678	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35275869	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4379291	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4711916	0.97[ASN][1000 genomes]
rs62410744	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413160	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62413163	0.88[EUR][1000 genomes]
rs9357582	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9357583	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9357584	0.89[EUR][1000 genomes]
rs9369813	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9369816	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9369818	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9381701	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9381704	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9395407	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9395413	0.89[EUR][1000 genomes]
rs9395414	0.89[EUR][1000 genomes]
rs9395417	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9381697	MUT	cis	Nerve Tibial	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48734800-48744400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48741400-48743400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:48741800-48743800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:48742000-48743400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:48742200-48743000	Enhancers	A549	lung
6	chr6:48742200-48743400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:48742600-48743600	Enhancers	Osteobl	bone
8	chr6:48742800-48743200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:48742800-48743400	Enhancers	HSMMtube	muscle
10	chr6:48742800-48743600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:48742800-48743600	Enhancers	HSMM	muscle
12	chr6:48742800-48746200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:48742800-48746200	Enhancers	NHEK	skin

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