Variant report

Variant	rs311638
Chromosome Location	chr8:90603149-90603150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10081423	0.92[EUR][1000 genomes]
rs10081569	0.89[EUR][1000 genomes]
rs10087963	0.85[EUR][1000 genomes]
rs10091099	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10092477	0.98[EUR][1000 genomes]
rs10093582	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10095948	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10956137	0.86[EUR][1000 genomes]
rs1487670	0.88[EUR][1000 genomes]
rs1510465	0.96[EUR][1000 genomes]
rs1546745	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs1601766	0.87[EUR][1000 genomes]
rs17540415	0.85[EUR][1000 genomes]
rs17840661	0.87[EUR][1000 genomes]
rs28678004	0.85[EUR][1000 genomes]
rs34871636	0.83[EUR][1000 genomes]
rs4563939	0.90[EUR][1000 genomes]
rs6981677	0.99[EUR][1000 genomes]
rs6986107	0.89[EUR][1000 genomes]
rs6999527	0.86[EUR][1000 genomes]
rs7844045	0.86[EUR][1000 genomes]
rs9297679	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1028969	chr8:90475194-90650295	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv528988	chr8:90475375-90608246	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv611720	chr8:90476925-90608246	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv427825	chr8:90495139-90653696	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv870380	chr8:90546585-90720182	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1028026	chr8:90553930-90678631	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv982109	chr8:90556188-90703631	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv1019986	chr8:90570309-90628648	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90597400-90615400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:90597400-90624000	Weak transcription	Aorta	Aorta
3	chr8:90598800-90604200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:90599400-90619600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:90599600-90607600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:90599600-90650800	Weak transcription	Left Ventricle	heart
7	chr8:90600200-90604000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:90600400-90608200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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