Variant report

Variant	rs72704105
Chromosome Location	chr4:175349440-175349441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10520282	0.80[EUR][1000 genomes]
rs11726315	0.82[EUR][1000 genomes]
rs11936682	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922385	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306935	0.83[EUR][1000 genomes]
rs4499680	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554044	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4593102	1.00[ASN][1000 genomes]
rs4624634	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58587119	0.81[EUR][1000 genomes]
rs6553793	1.00[ASN][1000 genomes]
rs66773185	1.00[ASN][1000 genomes]
rs67034472	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821522	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704109	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704112	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72704116	0.80[EUR][1000 genomes]
rs7677995	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175345200-175350600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:175345400-175350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:175345800-175349800	Weak transcription	HMEC	breast
4	chr4:175345800-175350400	Weak transcription	K562	blood
5	chr4:175347200-175350800	Weak transcription	A549	lung
6	chr4:175348600-175349600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:175348600-175349800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:175348600-175349800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr4:175348600-175350200	Enhancers	NHEK	skin
10	chr4:175348800-175350000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:175349000-175350800	Weak transcription	Fetal Lung	lung
12	chr4:175349000-175355200	Weak transcription	Placenta	Placenta
13	chr4:175349200-175350000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:175349400-175350200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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