Variant report

Variant	rs8074847
Chromosome Location	chr17:66787448-66787449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10468435	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657199	1.00[ASN][1000 genomes]
rs12451043	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550645	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34907620	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4968946	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968949	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7207331	0.88[ASN][1000 genomes]
rs9891808	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897902	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899443	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899682	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9901473	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9902652	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9903417	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9911813	0.96[EUR][1000 genomes];1.00[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	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	nsv526857	chr17:66787428-66789959	Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
4	nsv575927	chr17:66787428-66817866	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8074847	CACNG5	cis	cerebellum	SCAN
rs8074847	NOL11	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66768600-66789200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:66780400-66787600	Weak transcription	Right Atrium	heart
3	chr17:66784800-66789800	Enhancers	HepG2	liver
4	chr17:66785000-66790600	Enhancers	Liver	Liver
5	chr17:66786000-66787800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:66786400-66788000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:66786400-66788200	Enhancers	Fetal Muscle Leg	muscle
8	chr17:66786400-66791000	Enhancers	Adipose Nuclei	Adipose
9	chr17:66786400-66791000	Enhancers	NHDF-Ad	bronchial
10	chr17:66786400-66791200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr17:66786400-66791800	Enhancers	Fetal Lung	lung
12	chr17:66786400-66791800	Enhancers	NHLF	lung
13	chr17:66786600-66788400	Enhancers	Ovary	ovary
14	chr17:66786600-66791200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:66786800-66787800	Weak transcription	Spleen	Spleen
16	chr17:66786800-66788000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:66786800-66791000	Enhancers	Osteobl	bone
18	chr17:66787000-66788000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr17:66787000-66788200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:66787000-66788200	Enhancers	Primary B cells from peripheral blood	blood
21	chr17:66787000-66791400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr17:66787000-66791800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr17:66787200-66787800	Weak transcription	Fetal Stomach	stomach
24	chr17:66787200-66788800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:66787200-66789200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr17:66787200-66789200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr17:66787200-66789800	Weak transcription	Stomach Mucosa	stomach
28	chr17:66787200-66791800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr17:66787400-66787800	Weak transcription	HSMMtube	muscle
30	chr17:66787400-66788200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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