Variant report

Variant	rs7838683
Chromosome Location	chr8:52559644-52559645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10088109	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10101657	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10112473	0.89[EUR][1000 genomes]
rs10113743	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10958289	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958290	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541234	0.84[EUR][1000 genomes]
rs12543254	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12549383	0.84[EUR][1000 genomes]
rs12678094	0.88[EUR][1000 genomes]
rs13252521	0.84[EUR][1000 genomes]
rs13259819	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13274571	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13439031	0.88[EUR][1000 genomes]
rs17276712	0.90[ASN][1000 genomes]
rs17277222	0.99[ASN][1000 genomes]
rs2976204	0.88[EUR][1000 genomes]
rs34773755	0.88[EUR][1000 genomes]
rs35326600	0.88[EUR][1000 genomes]
rs35363824	0.83[EUR][1000 genomes]
rs4294172	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295654	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4377955	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4382468	0.89[EUR][1000 genomes]
rs4407875	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4517108	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4541902	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4565451	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4621801	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4636199	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873200	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4873567	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873570	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873571	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4873576	0.88[EUR][1000 genomes]
rs5000332	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6473631	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6473634	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473637	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6473638	0.87[EUR][1000 genomes]
rs6981246	0.90[ASN][1000 genomes]
rs6986081	0.90[ASN][1000 genomes]
rs6987982	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988401	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7005202	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007741	0.80[EUR][1000 genomes]
rs7010751	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012655	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7014372	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7018227	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830013	0.83[EUR][1000 genomes]
rs7834053	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8180923	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9284000	0.85[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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv831313	chr8:52458835-52638968	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52557400-52561200	Enhancers	Fetal Heart	heart
2	chr8:52557600-52560200	Enhancers	Ovary	ovary
3	chr8:52557800-52560200	Enhancers	Fetal Muscle Leg	muscle
4	chr8:52558000-52560600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr8:52558400-52560200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr8:52558600-52560000	Enhancers	Adipose Nuclei	Adipose
7	chr8:52559000-52560000	Enhancers	Fetal Stomach	stomach
8	chr8:52559000-52560200	Enhancers	Colon Smooth Muscle	Colon
9	chr8:52559200-52559800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:52559200-52559800	Enhancers	Fetal Lung	lung
11	chr8:52559400-52560000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr8:52559600-52560000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:52559600-52560000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr8:52559600-52560200	Flanking Active TSS	GM12878-XiMat	blood
15	chr8:52559600-52565600	Weak transcription	Aorta	Aorta
16	chr8:52559600-52565600	Weak transcription	Psoas Muscle	Psoas
17	chr8:52559600-52570400	Weak transcription	Left Ventricle	heart

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