Variant report

Variant	rs256047
Chromosome Location	chr5:111445302-111445303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1035858	0.99[ASN][1000 genomes]
rs10463623	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10463624	0.86[CHB][hapmap]
rs11241146	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs154047	0.83[ASN][1000 genomes]
rs168875	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2047070	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2048155	0.85[CHB][hapmap]
rs255910	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs255916	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs255920	0.83[ASN][1000 genomes]
rs25798	0.86[ASN][1000 genomes]
rs26543	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs26574	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs27408	0.83[ASN][1000 genomes]
rs27409	0.84[ASN][1000 genomes]
rs27412	0.84[ASN][1000 genomes]
rs27983	0.84[ASN][1000 genomes]
rs28037	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs30294	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs30389	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs30390	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs30391	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs30430	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34924	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs34942	0.87[CHB][hapmap]
rs39842	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs39843	0.84[ASN][1000 genomes]
rs39844	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs40568	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4958001	0.84[ASN][1000 genomes]
rs624694	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6883249	0.97[ASN][1000 genomes]
rs7710690	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9326846	0.82[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv882713	chr5:111399885-111445356	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv599369	chr5:111419303-111446465	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv599370	chr5:111419303-111485372	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1022734	chr5:111429579-111458935	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111429200-111456200	Weak transcription	Pancreas	Pancrea
2	chr5:111443200-111445800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:111444800-111446400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:111445000-111445400	Enhancers	Left Ventricle	heart
5	chr5:111445000-111445600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:111445000-111445600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:111445000-111445600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:111445000-111445600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:111445000-111445600	Enhancers	Adipose Nuclei	Adipose
10	chr5:111445000-111445600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:111445000-111445600	Enhancers	HMEC	breast
12	chr5:111445000-111445800	Enhancers	NHLF	lung
13	chr5:111445000-111446200	Enhancers	Fetal Lung	lung
14	chr5:111445000-111447000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:111445200-111445600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:111445200-111445600	Enhancers	NHEK	skin
17	chr5:111445200-111446800	Weak transcription	Fetal Heart	heart

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