Variant report

Variant	rs8071709
Chromosome Location	chr17:19429790-19429791
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11870808	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11871125	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2252281	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2440164	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2440165	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2453578	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2453579	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2453580	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2453581	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2453582	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2453583	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2453584	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55661368	0.98[EUR][1000 genomes]
rs894680	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057927	chr17:19152728-19431280	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv543252	chr17:19152728-19431280	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19424000-19432400	Weak transcription	Fetal Intestine Small	intestine
2	chr17:19424200-19429800	Weak transcription	Fetal Intestine Large	intestine
3	chr17:19426000-19433800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr17:19429000-19430200	Enhancers	Adipose Nuclei	Adipose
5	chr17:19429200-19429800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:19429200-19429800	Active TSS	A549	lung
7	chr17:19429200-19429800	Active TSS	HepG2	liver
8	chr17:19429200-19430000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr17:19429400-19430000	Active TSS	Liver	Liver
10	chr17:19429400-19430000	Active TSS	Duodenum Mucosa	Duodenum
11	chr17:19429400-19430000	Active TSS	Osteobl	bone
12	chr17:19429600-19429800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:19429600-19429800	Active TSS	Fetal Lung	lung
14	chr17:19429600-19430000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:19429600-19430000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr17:19429600-19430000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:19429600-19430000	Active TSS	Colonic Mucosa	Colon
18	chr17:19429600-19430000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr17:19429600-19430200	Enhancers	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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