Variant report

Variant	rs10070269
Chromosome Location	chr5:101954763-101954764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10035507	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10038730	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10045929	1.00[JPT][hapmap]
rs10051006	1.00[JPT][hapmap]
rs10057940	1.00[ASN][1000 genomes]
rs10059568	1.00[ASN][1000 genomes]
rs10059604	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060403	1.00[JPT][hapmap]
rs10066065	1.00[ASN][1000 genomes]
rs10069964	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073454	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10075530	1.00[JPT][hapmap]
rs10077046	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477819	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10479237	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10515328	0.93[ASN][1000 genomes]
rs10515329	0.93[ASN][1000 genomes]
rs13357560	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361792	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1502843	0.93[ASN][1000 genomes]
rs1502850	0.93[ASN][1000 genomes]
rs17150488	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17151033	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17151574	0.93[ASN][1000 genomes]
rs17152198	1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28415625	0.93[ASN][1000 genomes]
rs56181501	0.93[ASN][1000 genomes]
rs58139210	0.93[ASN][1000 genomes]
rs6596500	0.93[ASN][1000 genomes]
rs6862833	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866284	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6870113	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870270	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876722	1.00[JPT][hapmap]
rs6883528	1.00[JPT][hapmap]
rs6885350	1.00[JPT][hapmap]
rs6885781	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6885940	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890447	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6898458	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72779996	0.93[ASN][1000 genomes]
rs72779997	0.93[ASN][1000 genomes]
rs7705924	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709217	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728204	0.93[ASN][1000 genomes]
rs9327866	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686862	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9687561	0.91[AMR][1000 genomes];1.00[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	nsv817537	chr5:101489151-101992104	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1029894	chr5:101620079-102516827	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv830428	chr5:101797242-101958791	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1033193	chr5:101859229-102420837	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1033405	chr5:101912749-102005038	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
8	nsv427728	chr5:101937704-102103247	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101946200-101956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:101953800-101958000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:101953800-101958000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:101954400-101958000	Weak transcription	NHDF-Ad	bronchial
5	chr5:101954600-101955200	Enhancers	Colon Smooth Muscle	Colon
6	chr5:101954600-101960400	Weak transcription	Rectal Smooth Muscle	rectum

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