Variant report

Variant	rs72979934
Chromosome Location	chr4:86494092-86494093
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:15)

rs_ID	r²[population]
rs11947899	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12501836	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12501951	0.86[AFR][1000 genomes]
rs12510337	0.86[AFR][1000 genomes]
rs12651680	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1384136	0.83[AFR][1000 genomes]
rs1384137	0.86[AFR][1000 genomes]
rs17384463	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1871823	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2128101	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2904069	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4693708	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6821858	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7683928	0.85[AFR][1000 genomes]
rs9760558	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86477600-86494600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:86478000-86501000	Weak transcription	Right Ventricle	heart
3	chr4:86486000-86509200	Weak transcription	Left Ventricle	heart
4	chr4:86487000-86509200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:86487200-86521200	Weak transcription	HSMMtube	muscle
6	chr4:86488800-86512400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:86491200-86494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:86491600-86494800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:86491600-86497400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:86491800-86495000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:86491800-86497400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:86492200-86502000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr4:86492600-86501400	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:86492600-86517000	Weak transcription	Adipose Nuclei	Adipose
15	chr4:86493400-86497000	Weak transcription	HSMM	muscle
16	chr4:86493600-86495400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:86493600-86496600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:86494000-86494200	Weak transcription	Primary B cells from cord blood	blood
19	chr4:86494000-86494600	Weak transcription	NHDF-Ad	bronchial

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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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