Variant report

Variant	rs12546007
Chromosome Location	chr8:121395416-121395417
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121395101..121396775-chr8:121403444..121405016,2	K562	blood:
2	chr8:121389522..121392405-chr8:121394095..121396578,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10098436	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10109431	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1129080	0.96[ASN][1000 genomes]
rs1129353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11780830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11781786	0.97[ASN][1000 genomes]
rs12545308	0.96[ASN][1000 genomes]
rs12674727	0.94[ASN][1000 genomes]
rs12675235	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12676755	0.91[ASN][1000 genomes]
rs12678531	0.95[ASN][1000 genomes]
rs12678788	0.97[ASN][1000 genomes]
rs12680641	0.91[ASN][1000 genomes]
rs13252173	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13263962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16893976	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4242313	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4448321	0.98[ASN][1000 genomes]
rs4452825	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4463470	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4565499	0.95[ASN][1000 genomes]
rs4573322	0.98[ASN][1000 genomes]
rs4590476	0.96[ASN][1000 genomes]
rs4871067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61203971	0.97[ASN][1000 genomes]
rs61424477	0.83[ASN][1000 genomes]
rs6415474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469920	0.94[ASN][1000 genomes]
rs6469921	0.94[ASN][1000 genomes]
rs6984090	0.97[ASN][1000 genomes]
rs6985660	0.97[ASN][1000 genomes]
rs7002445	0.97[ASN][1000 genomes]
rs7015443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73315165	0.97[ASN][1000 genomes]
rs73315171	0.97[ASN][1000 genomes]
rs73315174	0.95[ASN][1000 genomes]
rs73315182	0.95[ASN][1000 genomes]
rs7812590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7814949	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7818026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7819405	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7826906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7832933	0.93[ASN][1000 genomes]
rs7834496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7835198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7835363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9297619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9650081	0.98[ASN][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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121369600-121406200	Weak transcription	Left Ventricle	heart
2	chr8:121386200-121395800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:121391200-121395800	Weak transcription	Fetal Stomach	stomach
4	chr8:121391200-121406600	Weak transcription	NHLF	lung
5	chr8:121391400-121407000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:121392200-121402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:121392400-121395800	Weak transcription	Osteobl	bone
8	chr8:121392800-121403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:121394000-121396200	Weak transcription	Fetal Heart	heart
10	chr8:121395400-121395600	Flanking Active TSS	Aorta	Aorta

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