Variant report

Variant	rs4835863
Chromosome Location	chr5:124426758-124426759
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11241784	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11241785	0.91[ASN][1000 genomes]
rs11950458	0.98[ASN][1000 genomes]
rs11953289	0.87[ASN][1000 genomes]
rs11956003	0.89[ASN][1000 genomes]
rs11956633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12520910	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12655216	0.83[ASN][1000 genomes]
rs13157128	0.87[ASN][1000 genomes]
rs4076183	0.87[ASN][1000 genomes]
rs4076184	0.87[ASN][1000 genomes]
rs4076185	0.89[ASN][1000 genomes]
rs4131047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4293913	0.80[ASN][1000 genomes]
rs4415071	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4451044	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4452554	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4510579	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4554218	0.87[ASN][1000 genomes]
rs4555796	0.82[JPT][hapmap]
rs4643951	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55888913	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55919034	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59246326	0.95[ASN][1000 genomes]
rs59612060	0.80[AMR][1000 genomes]
rs62372851	0.80[AMR][1000 genomes]
rs6595573	0.80[ASN][1000 genomes]
rs6595575	0.98[ASN][1000 genomes]
rs6870629	0.89[ASN][1000 genomes]
rs6872841	0.83[ASW][hapmap];0.88[CEU][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72787446	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72787451	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7445665	0.91[ASN][1000 genomes]
rs7709124	0.93[ASN][1000 genomes]
rs7711673	0.80[AMR][1000 genomes]
rs7724511	0.93[ASN][1000 genomes]
rs875330	0.89[ASN][1000 genomes]
rs875331	0.87[ASN][1000 genomes]
rs875332	0.87[ASN][1000 genomes]
rs968327	0.87[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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1019740	chr5:124394818-124431220	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4835863	ZNF608	cis	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124420000-124428200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:124420000-124429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:124420200-124429400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:124422200-124428400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:124424400-124430000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:124424800-124429400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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