Variant report

Variant	rs8070147
Chromosome Location	chr17:66979187-66979188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1001239	1.00[CEU][hapmap]
rs10512522	1.00[CHD][hapmap]
rs12103695	1.00[CHD][hapmap]
rs1541469	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs16967340	0.87[GIH][hapmap]
rs16973446	1.00[CHD][hapmap]
rs16973452	1.00[CHD][hapmap]
rs1860448	0.87[GIH][hapmap]
rs1984722	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs2109227	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4968994	0.87[GIH][hapmap]
rs7212490	0.87[GIH][hapmap]
rs7221250	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs7222838	1.00[CHD][hapmap]
rs8066118	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8067175	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8067334	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8069055	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8072153	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8073997	1.00[CEU][hapmap]
rs8077504	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9893173	1.00[CHD][hapmap]
rs9899818	1.00[CHD][hapmap]
rs9915531	1.00[CHD][hapmap]

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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv908700	chr17:66885526-66985992	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66965600-66980200	Weak transcription	Brain Anterior Caudate	brain
2	chr17:66965600-66986000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr17:66969200-66982800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:66970800-66984000	Weak transcription	Spleen	Spleen
5	chr17:66971000-66987800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:66972600-66981600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:66973600-66980000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:66977200-66982800	Strong transcription	Ovary	ovary
9	chr17:66977400-66981600	Weak transcription	Brain Angular Gyrus	brain
10	chr17:66977400-66984200	Weak transcription	Gastric	stomach
11	chr17:66977400-66989400	Weak transcription	Pancreas	Pancrea
12	chr17:66977600-66981200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr17:66977600-67001400	Weak transcription	Fetal Lung	lung
14	chr17:66977800-66979800	Weak transcription	Right Atrium	heart
15	chr17:66977800-66981000	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:66977800-66984000	Weak transcription	HepG2	liver
17	chr17:66977800-66987600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:66977800-66991000	Weak transcription	Fetal Stomach	stomach
19	chr17:66977800-66991600	Strong transcription	Adipose Nuclei	Adipose
20	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr17:66978400-66981400	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr17:66978600-66981000	Strong transcription	Liver	Liver
23	chr17:66978600-66987200	Weak transcription	NHDF-Ad	bronchial
24	chr17:66978600-66988000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:66978600-66989400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:66978800-66981400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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