Variant report

Variant	rs2191116
Chromosome Location	chr17:15026800-15026801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1076385	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11654880	0.93[EUR][1000 genomes]
rs2041267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191115	0.97[EUR][1000 genomes]
rs2875084	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4427846	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4792574	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7209181	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs758485	0.87[EUR][1000 genomes]
rs758489	0.82[EUR][1000 genomes]
rs763614	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8081018	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs917538	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs917539	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs983292	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs983293	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9913491	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064686	chr17:14897967-15046005	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv907700	chr17:15026800-15059276	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15005800-15027000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:15023200-15028600	Enhancers	NHDF-Ad	bronchial
3	chr17:15023400-15028600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:15025600-15027000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:15026000-15026800	Enhancers	Fetal Heart	heart
6	chr17:15026000-15027800	Enhancers	NH-A	brain
7	chr17:15026200-15027600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:15026400-15027400	Enhancers	Fetal Muscle Leg	muscle
9	chr17:15026400-15027600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:15026400-15028200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:15026400-15028200	Enhancers	Osteobl	bone
12	chr17:15026600-15026800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:15026600-15027200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:15026600-15027600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:15026600-15027600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr17:15026600-15027600	Enhancers	HSMM	muscle
17	chr17:15026600-15027600	Enhancers	HSMMtube	muscle
18	chr17:15026800-15027000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr17:15026800-15027200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:15026800-15027600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:15026800-15027600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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