Variant report

Variant	rs72974953
Chromosome Location	chr4:86632128-86632129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1014642	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12505724	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12506038	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12509904	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12510148	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13102863	0.82[ASN][1000 genomes]
rs13108523	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13110928	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13127367	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13134382	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136153	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13137575	0.83[ASN][1000 genomes]
rs13139248	0.82[ASN][1000 genomes]
rs13147689	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004613	0.81[ASN][1000 genomes]
rs34056429	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34820504	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35250811	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35341700	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35472747	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35577842	0.85[ASN][1000 genomes]
rs3889735	0.81[ASN][1000 genomes]
rs4693731	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693734	0.80[ASN][1000 genomes]
rs58146546	0.85[ASN][1000 genomes]
rs6813860	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs71599423	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7676486	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs900204	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
2	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
3	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
4	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
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86625400-86638200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:86629200-86633200	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:86629400-86635800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:86629800-86635800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:86629800-86636200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:86629800-86636600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:86629800-86638000	Weak transcription	Fetal Lung	lung
8	chr4:86629800-86638000	Weak transcription	HSMMtube	muscle
9	chr4:86630000-86634200	Weak transcription	Primary B cells from cord blood	blood
10	chr4:86630400-86632200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:86631800-86632400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr4:86632000-86647000	Weak transcription	Fetal Muscle Trunk	muscle

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