Variant report

Variant	rs4548939
Chromosome Location	chr17:67003285-67003286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11077858	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11077859	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11077860	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11077884	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11453	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11871766	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12939564	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12940103	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12942599	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12943969	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1541470	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16973495	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2191212	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2191213	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2302292	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2302293	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2302294	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36096265	0.85[ASN][1000 genomes]
rs4968983	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6501947	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7207125	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215642	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7218871	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068236	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8070357	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9894490	0.82[EUR][1000 genomes];0.88[ASN][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	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	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:66979400-67005400	Weak transcription	Psoas Muscle	Psoas
3	chr17:66980400-67009400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:66989600-67004200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:66989800-67011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr17:67000000-67007400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:67000200-67044200	Weak transcription	Right Ventricle	heart
8	chr17:67001200-67006000	Strong transcription	Liver	Liver
9	chr17:67001200-67009400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:67001200-67014600	Strong transcription	Adipose Nuclei	Adipose
11	chr17:67001400-67005800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:67001600-67009600	Weak transcription	Fetal Muscle Leg	muscle
13	chr17:67001800-67004600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr17:67001800-67010800	Weak transcription	Left Ventricle	heart
15	chr17:67002400-67013200	Weak transcription	Fetal Lung	lung
16	chr17:67003000-67003400	Strong transcription	Ovary	ovary

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