Variant report

Variant	rs17719493
Chromosome Location	chr8:89061117-89061118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16877270	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17646041	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17646751	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718032	1.00[ASN][1000 genomes]
rs17718458	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17719609	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719657	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871050	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2097944	1.00[ASN][1000 genomes]
rs2342	1.00[ASN][1000 genomes]
rs28991897	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59222707	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675113	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73692187	1.00[ASN][1000 genomes]
rs73694221	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650033	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650034	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv428520	chr8:88933423-89089323	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2758163	chr8:88963829-89133704	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv2759625	chr8:88963829-89133704	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89045800-89068600	Weak transcription	Fetal Lung	lung
2	chr8:89050600-89066600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:89051400-89101000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:89051600-89073600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:89051800-89084600	Weak transcription	Fetal Stomach	stomach
6	chr8:89052000-89068600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:89052200-89068400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:89052200-89073000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:89052200-89073600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:89052200-89073600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:89052400-89063000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:89052400-89067600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:89052400-89090400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:89052600-89073200	Weak transcription	Fetal Brain Male	brain
15	chr8:89054000-89064800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:89054000-89073600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:89054000-89081200	Weak transcription	Fetal Brain Female	brain
18	chr8:89056200-89065200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:89056600-89064400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:89057200-89069600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:89057600-89073600	Weak transcription	Fetal Kidney	kidney
22	chr8:89058600-89088800	Weak transcription	NH-A	brain
23	chr8:89059400-89062800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:89060000-89069000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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