Variant report

Variant	rs2250405
Chromosome Location	chr8:115981510-115981511
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10097665	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10100414	0.81[EUR][1000 genomes]
rs10101002	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109921	0.92[ASN][1000 genomes]
rs11776242	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11987323	0.91[ASN][1000 genomes]
rs11987349	0.90[ASN][1000 genomes]
rs11990578	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12334632	0.91[ASN][1000 genomes]
rs12334634	0.91[ASN][1000 genomes]
rs12335206	0.91[ASN][1000 genomes]
rs16886705	0.90[ASN][1000 genomes]
rs16886707	0.90[ASN][1000 genomes]
rs1872780	0.92[ASN][1000 genomes]
rs1872781	0.92[ASN][1000 genomes]
rs1872783	0.81[EUR][1000 genomes]
rs2250469	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357737	0.90[ASN][1000 genomes]
rs2357738	0.90[ASN][1000 genomes]
rs2357740	0.91[ASN][1000 genomes]
rs2357741	0.90[ASN][1000 genomes]
rs2357742	0.92[ASN][1000 genomes]
rs2357743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2575931	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631809	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631826	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28522482	0.92[ASN][1000 genomes]
rs28766963	0.92[ASN][1000 genomes]
rs36099058	0.80[ASN][1000 genomes]
rs4295691	0.92[ASN][1000 genomes]
rs4300037	0.90[ASN][1000 genomes]
rs590489	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59425104	0.81[EUR][1000 genomes]
rs602202	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs616041	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469561	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659598	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs670212	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673380	0.95[ASN][1000 genomes]
rs694614	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985875	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989745	0.89[ASN][1000 genomes]
rs7005793	0.91[ASN][1000 genomes]
rs7819451	0.81[EUR][1000 genomes]
rs7821567	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833058	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7835429	0.92[ASN][1000 genomes]
rs7836605	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7839309	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7840884	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9297536	0.92[ASN][1000 genomes]
rs9632807	0.87[ASN][1000 genomes]
rs9632821	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv611976	chr8:115261134-116223865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018280	chr8:115307838-116189192	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv539726	chr8:115307838-116189192	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv891372	chr8:115351857-116037119	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv891373	chr8:115351857-116295809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv891377	chr8:115395451-116110725	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv891395	chr8:115642536-116222842	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv891397	chr8:115810385-116129344	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115977200-115985400	Weak transcription	Aorta	Aorta
2	chr8:115981000-115981600	Weak transcription	Liver	Liver

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