Variant report

Variant	rs6860824
Chromosome Location	chr5:54137797-54137798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54131587..54134276-chr5:54135808..54138723,2	K562	blood:
2	chr5:53813511..53816298-chr5:54135722..54138422,2	MCF-7	breast:
3	chr5:53719508..53722499-chr5:54137600..54140313,3	K562	blood:

Variant related genes	Relation type
ENSG00000178996	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10036606	0.83[EUR][1000 genomes]
rs1005622	0.85[GIH][hapmap];0.89[TSI][hapmap]
rs11952681	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13161386	0.85[EUR][1000 genomes]
rs13161718	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13171964	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1560167	0.85[GIH][hapmap];0.89[TSI][hapmap]
rs1988528	0.95[EUR][1000 genomes]
rs1991498	0.85[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes]
rs2017318	0.95[EUR][1000 genomes]
rs2017540	0.95[EUR][1000 genomes]
rs2407758	0.95[EUR][1000 genomes]
rs3935813	0.99[ASN][1000 genomes]
rs4074332	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.96[ASN][1000 genomes]
rs4242046	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4289528	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4315891	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4320207	0.83[EUR][1000 genomes]
rs4320216	0.82[GIH][hapmap];0.94[TSI][hapmap]
rs4336311	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4373237	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4407587	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4437335	0.83[EUR][1000 genomes]
rs4446420	0.89[ASN][1000 genomes]
rs4451014	0.83[EUR][1000 genomes]
rs4582235	0.83[EUR][1000 genomes]
rs4865586	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4865587	0.89[ASN][1000 genomes]
rs4865876	0.83[EUR][1000 genomes]
rs4865877	0.83[EUR][1000 genomes]
rs4865883	0.95[EUR][1000 genomes]
rs6450253	0.83[EUR][1000 genomes]
rs6887578	0.83[EUR][1000 genomes]
rs6891667	0.99[ASN][1000 genomes]
rs6893903	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7446869	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7448996	0.99[ASN][1000 genomes]
rs7708368	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7731103	0.80[EUR][1000 genomes]
rs7734613	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs981978	0.95[EUR][1000 genomes]
rs9968754	0.83[EUR][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	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54117200-54138000	Weak transcription	Aorta	Aorta
2	chr5:54131000-54140800	Weak transcription	Adipose Nuclei	Adipose
3	chr5:54132000-54140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:54133400-54138400	Weak transcription	NHLF	lung
5	chr5:54133800-54140600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:54134800-54140200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:54135000-54140000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:54135000-54140400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:54135800-54140800	Weak transcription	Fetal Intestine Large	intestine
10	chr5:54136000-54140800	Weak transcription	Liver	Liver
11	chr5:54137200-54138000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:54137200-54140800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:54137600-54140200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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