Variant report

Variant	rs1446071
Chromosome Location	chr8:120550360-120550361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10086941	0.82[EUR][1000 genomes]
rs10087213	0.81[EUR][1000 genomes]
rs10087316	0.81[EUR][1000 genomes]
rs10087415	0.81[EUR][1000 genomes]
rs10090542	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095019	0.82[EUR][1000 genomes]
rs10095956	0.81[EUR][1000 genomes]
rs10102546	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10105471	0.82[EUR][1000 genomes]
rs10107512	0.82[EUR][1000 genomes]
rs10112143	0.82[EUR][1000 genomes]
rs1080040	0.83[TSI][hapmap]
rs10955931	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11774319	0.81[EUR][1000 genomes]
rs11777943	0.80[EUR][1000 genomes]
rs11782176	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11987056	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12544624	0.82[EUR][1000 genomes]
rs1374098	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1446070	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446072	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17190725	0.82[EUR][1000 genomes]
rs17794271	0.81[EUR][1000 genomes]
rs1867743	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992722	0.82[EUR][1000 genomes]
rs1992723	0.81[EUR][1000 genomes]
rs1992724	0.81[EUR][1000 genomes]
rs28575764	0.82[EUR][1000 genomes]
rs28612171	0.82[EUR][1000 genomes]
rs28673148	0.81[EUR][1000 genomes]
rs4870833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871324	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871333	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871334	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871336	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871337	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6469828	0.86[TSI][hapmap]
rs6982983	0.81[EUR][1000 genomes]
rs6982993	0.81[EUR][1000 genomes]
rs6987543	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993464	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999626	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003326	0.81[EUR][1000 genomes]
rs7005633	0.80[EUR][1000 genomes]
rs7009858	0.81[EUR][1000 genomes]
rs7016811	0.82[EUR][1000 genomes]
rs72686373	0.82[EUR][1000 genomes]
rs72686376	0.81[EUR][1000 genomes]
rs73713855	0.81[EUR][1000 genomes]
rs7813722	0.82[EUR][1000 genomes]
rs7815000	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816665	0.82[EUR][1000 genomes]
rs7830059	0.82[EUR][1000 genomes]
rs7830192	0.82[EUR][1000 genomes]
rs7832928	0.82[EUR][1000 genomes]
rs7838891	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846200	0.86[TSI][hapmap]
rs895384	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs895385	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297598	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1446071	NOV	cis	parietal	SCAN
rs1446071	RAD21	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120548200-120553200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:120548200-120553200	Weak transcription	Adipose Nuclei	Adipose
3	chr8:120548400-120552000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:120548400-120552600	Weak transcription	Osteobl	bone
5	chr8:120548400-120552800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:120548400-120553200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:120548600-120552200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:120548600-120552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:120548600-120552400	Weak transcription	NHDF-Ad	bronchial
10	chr8:120548800-120552600	Weak transcription	NHLF	lung

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