Variant report

Variant	rs57488998
Chromosome Location	chr8:107893146-107893147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16875203	1.00[AMR][1000 genomes]
rs16875237	1.00[AMR][1000 genomes]
rs16875240	1.00[AMR][1000 genomes]
rs55897111	1.00[AMR][1000 genomes]
rs56107939	1.00[AMR][1000 genomes]
rs56224374	1.00[AMR][1000 genomes]
rs56373658	1.00[AMR][1000 genomes]
rs57637160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57746942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59045856	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59178284	1.00[AMR][1000 genomes]
rs59275441	1.00[AMR][1000 genomes]
rs59901092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60857656	1.00[AMR][1000 genomes]
rs61218099	1.00[AMR][1000 genomes]
rs6993168	1.00[AMR][1000 genomes]
rs73699609	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699611	1.00[AMR][1000 genomes]
rs73699612	1.00[AMR][1000 genomes]
rs73699613	1.00[AMR][1000 genomes]
rs73699614	1.00[AMR][1000 genomes]
rs73699615	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699616	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73699618	1.00[AMR][1000 genomes]
rs73699664	1.00[AMR][1000 genomes]
rs73699680	1.00[AMR][1000 genomes]
rs73701755	1.00[AMR][1000 genomes]
rs73702449	1.00[AMR][1000 genomes]
rs73702459	1.00[AMR][1000 genomes]
rs73702460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv465757	chr8:107846295-107893477	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv611848	chr8:107846295-107893477	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv891265	chr8:107880864-107921739	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107884000-107904600	Weak transcription	Psoas Muscle	Psoas
2	chr8:107887000-107893600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:107891200-107893200	Weak transcription	HSMMtube	muscle
4	chr8:107891200-107894000	Weak transcription	NH-A	brain
5	chr8:107891400-107894400	Weak transcription	Aorta	Aorta
6	chr8:107891400-107900400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:107892000-107893200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:107892000-107893200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:107892000-107893200	Weak transcription	Osteobl	bone
10	chr8:107892000-107900600	Weak transcription	NHDF-Ad	bronchial
11	chr8:107892200-107893200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:107893000-107894200	Enhancers	HSMM	muscle

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