Variant report

Variant	rs2460691
Chromosome Location	chr6:71613855-71613856
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:71596480..71598163-chr6:71613473..71615204,2	K562	blood:
2	chr6:71610333..71612285-chr6:71613695..71615747,2	K562	blood:
3	chr6:71606070..71607915-chr6:71612676..71615481,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10945275	0.81[CHD][hapmap]
rs12212650	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1304029	0.82[GIH][hapmap]
rs1320315	0.84[CHB][hapmap];0.81[CHD][hapmap]
rs1535288	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1574490	0.84[AMR][1000 genomes]
rs2255286	0.89[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2347629	0.89[CHB][hapmap];0.82[YRI][hapmap]
rs2460696	0.84[GIH][hapmap]
rs2474918	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2504735	0.84[CHB][hapmap];0.81[CHD][hapmap];0.89[JPT][hapmap]
rs2504739	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4707868	0.89[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4707869	0.89[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap]
rs4707871	0.84[CHB][hapmap]
rs6900011	0.84[CHB][hapmap];0.81[CHD][hapmap]
rs6914786	0.84[AMR][1000 genomes]
rs7449748	0.84[CHB][hapmap]
rs9294882	0.89[CHB][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs9446313	0.80[AMR][1000 genomes]
rs9455273	0.85[AMR][1000 genomes]
rs9455274	0.85[AMR][1000 genomes]
rs9455275	0.84[AMR][1000 genomes]
rs9455277	0.82[AMR][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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv603639	chr6:71595151-71623253	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2460691	MED30	trans	parietal	SCAN
rs2460691	C6orf57	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71613600-71614000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:71613800-71614000	Enhancers	Adipose Nuclei	Adipose
3	chr6:71613800-71614400	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links