Variant report

Variant	rs66498753
Chromosome Location	chr8:86317245-86317246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86316256..86319104-chr8:86323335..86325398,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087278	0.81[ASN][1000 genomes]
rs10091566	0.82[ASN][1000 genomes]
rs10504812	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10907474	0.83[ASN][1000 genomes]
rs11780285	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11985029	0.81[ASN][1000 genomes]
rs11985733	0.81[ASN][1000 genomes]
rs13255540	0.97[ASN][1000 genomes]
rs13273654	0.84[ASN][1000 genomes]
rs1389245	0.97[ASN][1000 genomes]
rs1389247	0.97[ASN][1000 genomes]
rs1390712	0.82[ASN][1000 genomes]
rs1472360	0.97[ASN][1000 genomes]
rs1493302	0.82[ASN][1000 genomes]
rs1496526	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1496527	0.88[EUR][1000 genomes]
rs1496529	0.89[ASN][1000 genomes]
rs1496530	0.81[ASN][1000 genomes]
rs1532423	0.84[ASN][1000 genomes]
rs1543852	0.81[ASN][1000 genomes]
rs1908075	0.80[ASN][1000 genomes]
rs2055077	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs20571	0.82[ASN][1000 genomes]
rs2072696	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2403105	0.97[ASN][1000 genomes]
rs2453868	0.96[ASN][1000 genomes]
rs2548281	0.99[ASN][1000 genomes]
rs2645047	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2645049	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645051	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2645053	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3087782	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3758078	0.81[ASN][1000 genomes]
rs55641432	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55929157	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58958691	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67824746	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6997458	0.84[ASN][1000 genomes]
rs7000950	0.87[ASN][1000 genomes]
rs7016369	0.83[ASN][1000 genomes]
rs713488	0.97[ASN][1000 genomes]
rs713489	0.97[ASN][1000 genomes]
rs7386162	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs931505	0.97[ASN][1000 genomes]
rs9987281	0.81[ASN][1000 genomes]
rs999466	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS 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	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86316600-86318000	Enhancers	Fetal Lung	lung
2	chr8:86316800-86317400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:86316800-86317600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:86316800-86317600	Enhancers	Skeletal Muscle Female	skeletal muscle

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