Variant report

Variant	rs1385493
Chromosome Location	chr8:120087441-120087442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1156545	0.89[CEU][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs1158945	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs11994775	0.95[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs13259300	0.81[ASN][1000 genomes]
rs1351952	0.95[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1351954	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1385492	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1385496	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs1385498	0.89[CEU][hapmap]
rs1485293	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1485294	0.81[ASN][1000 genomes]
rs1872424	0.89[CEU][hapmap]
rs1905775	0.95[CHB][hapmap];0.98[CHD][hapmap];0.99[ASN][1000 genomes]
rs2242313	0.89[CEU][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.85[EUR][1000 genomes]
rs2247769	0.92[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs2450061	0.83[EUR][1000 genomes]
rs2450064	0.99[ASN][1000 genomes]
rs2450065	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs2450067	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs2450068	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs2450069	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs2450072	0.89[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2450076	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs2450080	0.89[CEU][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2465383	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs2465385	0.89[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs2465390	0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs2465392	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2465393	0.85[EUR][1000 genomes]
rs2465395	0.90[EUR][1000 genomes]
rs2465403	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs2465404	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs6469811	0.82[EUR][1000 genomes]
rs7813952	0.88[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs996789	0.85[AMR][1000 genomes];0.91[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	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	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1385493	NOV	cis	cerebellum	SCAN
rs1385493	MAL2	cis	cerebellum	SCAN
rs1385493	TNFRSF11B	cis	lymphoblastoid	seeQTL
rs1385493	SAMD12	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120084600-120095200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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