Variant report

Variant	rs12651164
Chromosome Location	chr4:68742877-68742878
allele	A/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:18)

rs_ID	r²[population]
rs13340258	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13340268	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17088752	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17088759	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17088764	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55766746	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55903816	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56737087	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59610645	0.82[AMR][1000 genomes]
rs62301340	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62301341	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62301342	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62301343	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62301347	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6814661	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6835792	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72849572	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72849579	0.85[AMR][1000 genomes];0.86[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	nsv879214	chr4:68389841-68789778	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv829960	chr4:68649237-68809629	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1007376	chr4:68693483-69008202	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv1811886	chr4:68725776-68780041	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68739000-68747000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:68739600-68747400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:68741200-68751400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:68741400-68746600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:68741400-68746800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:68741400-68746800	Weak transcription	NHDF-Ad	bronchial
7	chr4:68741400-68751800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:68741400-68752800	Weak transcription	Esophagus	oesophagus
9	chr4:68741600-68746600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:68741800-68746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:68742000-68744800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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