Variant report

Variant	rs6982766
Chromosome Location	chr8:122254521-122254522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10089470	0.81[EUR][1000 genomes]
rs10100820	0.80[EUR][1000 genomes]
rs10100931	0.80[EUR][1000 genomes]
rs10101120	0.80[EUR][1000 genomes]
rs10102893	1.00[ASN][1000 genomes]
rs10104288	0.81[EUR][1000 genomes]
rs10104487	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104658	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10104851	0.81[EUR][1000 genomes]
rs10107769	0.81[EUR][1000 genomes]
rs10505396	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1124090	1.00[ASN][1000 genomes]
rs13258658	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261111	0.80[EUR][1000 genomes]
rs1504656	0.80[EUR][1000 genomes]
rs1553507	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553508	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206976	1.00[ASN][1000 genomes]
rs1827655	1.00[ASN][1000 genomes]
rs1847545	0.81[EUR][1000 genomes]
rs2202381	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2386064	0.80[EUR][1000 genomes]
rs2386065	0.81[EUR][1000 genomes]
rs2386267	1.00[ASN][1000 genomes]
rs2581548	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2581549	1.00[ASN][1000 genomes]
rs2581550	1.00[ASN][1000 genomes]
rs2581552	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656110	1.00[ASN][1000 genomes]
rs2656111	1.00[ASN][1000 genomes]
rs2656113	1.00[ASN][1000 genomes]
rs2656114	1.00[ASN][1000 genomes]
rs2656115	1.00[ASN][1000 genomes]
rs2656116	1.00[ASN][1000 genomes]
rs4242325	1.00[CHB][hapmap]
rs4870764	0.81[EUR][1000 genomes]
rs62526726	1.00[ASN][1000 genomes]
rs6983966	1.00[ASN][1000 genomes]
rs6988416	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988639	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989776	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815430	0.91[EUR][1000 genomes]
rs905759	1.00[ASN][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	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	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
rs6982766	OS9	trans	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122253200-122256800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:122253200-122258600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:122253400-122258200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:122253400-122258800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:122253400-122264000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:122253600-122257600	Weak transcription	Osteobl	bone
7	chr8:122253600-122258400	Weak transcription	HSMMtube	muscle
8	chr8:122253600-122258400	Weak transcription	NHLF	lung
9	chr8:122253800-122256800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:122253800-122257200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:122253800-122257200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:122253800-122257600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:122253800-122258200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:122253800-122258200	Weak transcription	NHDF-Ad	bronchial

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