Variant report

Variant	rs7816983
Chromosome Location	chr8:51305415-51305416
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10086867	0.96[ASN][1000 genomes]
rs1117213	0.84[ASN][1000 genomes]
rs12545003	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12546829	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12675994	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12679464	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13259996	0.82[ASN][1000 genomes]
rs13278343	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1375942	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1481471	0.81[AMR][1000 genomes]
rs1597432	0.84[ASN][1000 genomes]
rs1597433	0.84[ASN][1000 genomes]
rs16914780	0.84[ASN][1000 genomes]
rs16914781	0.96[ASN][1000 genomes]
rs1947254	0.84[ASN][1000 genomes]
rs2923059	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2923062	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2957598	0.84[ASN][1000 genomes]
rs2957600	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2957601	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35063719	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4147344	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4242460	0.86[ASN][1000 genomes]
rs4256602	0.85[ASN][1000 genomes]
rs4292700	0.98[ASN][1000 genomes]
rs4339654	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4364645	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4410921	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4529480	0.99[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4534138	0.84[ASN][1000 genomes]
rs4604450	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4639524	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873453	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6473114	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6994415	0.96[ASN][1000 genomes]
rs6995334	0.90[AFR][1000 genomes]
rs7005672	0.85[ASN][1000 genomes]
rs7015950	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7839253	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7845433	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs983055	0.87[AFR][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	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831312	chr8:51239772-51422844	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51300000-51319800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51301800-51306400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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