Variant report

Variant	rs231319
Chromosome Location	chr8:113850982-113850983
allele	C/T
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:28)

rs_ID	r²[population]
rs10081489	0.83[CEU][hapmap];0.82[YRI][hapmap]
rs10106945	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10216504	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216505	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12334432	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13261060	0.84[CEU][hapmap]
rs1549354	0.88[CEU][hapmap]
rs1991136	0.88[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1991137	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2113666	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2161925	0.84[CEU][hapmap]
rs231279	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs231281	0.93[CEU][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs231285	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs231286	0.94[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs231289	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs231316	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2355821	0.82[CEU][hapmap]
rs6999481	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7004983	0.80[CEU][hapmap]
rs7005129	0.84[CEU][hapmap]
rs7817596	1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7817836	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7832050	0.84[CEU][hapmap]
rs889987	0.84[CEU][hapmap]
rs9297478	0.87[CEU][hapmap]
rs9297479	0.88[CEU][hapmap]
rs9297480	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][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	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
2	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	esv2754315	chr8:113736824-114048824	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv524089	chr8:113761143-113852777	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv891326	chr8:113777669-114091732	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv891327	chr8:113828980-114109342	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113838800-113855800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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