Variant report

Variant	rs62516491
Chromosome Location	chr8:113520226-113520227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10101060	0.90[ASN][1000 genomes]
rs10101978	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10101987	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10105193	0.87[ASN][1000 genomes]
rs10110235	0.83[ASN][1000 genomes]
rs10110469	0.80[ASN][1000 genomes]
rs10110963	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10112543	0.87[ASN][1000 genomes]
rs10112964	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11779203	0.87[ASN][1000 genomes]
rs11782110	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11782461	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11784468	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12334311	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12386777	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1377368	0.84[ASN][1000 genomes]
rs16883801	0.87[ASN][1000 genomes]
rs16883833	0.84[ASN][1000 genomes]
rs2198362	0.93[ASN][1000 genomes]
rs2354349	0.87[ASN][1000 genomes]
rs34737059	0.90[ASN][1000 genomes]
rs58552247	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs60989653	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62516502	0.90[ASN][1000 genomes]
rs62516507	0.86[ASN][1000 genomes]
rs62516510	0.84[ASN][1000 genomes]
rs6469425	0.81[ASN][1000 genomes]
rs6981125	0.84[ASN][1000 genomes]
rs7835439	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7838822	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7838963	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7839026	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs896760	0.88[ASN][1000 genomes]
rs981692	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2755868	chr8:113282795-113634842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2754232	chr8:113294967-113634842	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv831427	chr8:113494319-113699264	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113513400-113520400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:113513400-113520400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:113520000-113520600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:113520000-113520600	Active TSS	A549	lung
5	chr8:113520200-113520400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr8:113520200-113520800	Active TSS	Duodenum Mucosa	Duodenum
7	chr8:113520200-113520800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr8:113520200-113521000	Enhancers	Stomach Mucosa	stomach
9	chr8:113520200-113521200	Enhancers	NHEK	skin

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