Variant report

Variant	rs10148244
Chromosome Location	chr14:78104381-78104382
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78100950..78102478-chr14:78102810..78104938,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10140195	0.84[CHB][hapmap]
rs10162458	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873309	0.86[CHD][hapmap]
rs11626349	0.81[CHB][hapmap];0.91[CHD][hapmap]
rs11626892	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176897	0.82[ASN][1000 genomes]
rs176898	0.82[ASN][1000 genomes]
rs176901	0.84[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs176903	0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs176907	0.83[ASN][1000 genomes]
rs176915	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1990806	0.90[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs2267750	0.86[CHD][hapmap]
rs2299921	0.86[CHD][hapmap]
rs2299922	0.84[CHB][hapmap];0.95[CHD][hapmap]
rs2299924	0.83[CHD][hapmap]
rs2299927	0.91[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs2299928	0.86[CHD][hapmap]
rs2299929	0.95[CEU][hapmap];0.82[ASN][1000 genomes]
rs28460392	0.82[ASN][1000 genomes]
rs28472502	0.80[ASN][1000 genomes]
rs61990852	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990853	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144314	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144524	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8018203	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9944097	0.91[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10148244	COQ6	cis	parietal	SCAN
rs10148244	PLEKHG5	trans	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78102600-78107600	Weak transcription	Lung	lung
2	chr14:78103000-78107800	Weak transcription	HepG2	liver
3	chr14:78103600-78105000	Weak transcription	K562	blood
4	chr14:78103600-78105400	Enhancers	NHEK	skin
5	chr14:78103800-78104600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr14:78104000-78105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:78104000-78105800	Enhancers	Stomach Mucosa	stomach
8	chr14:78104000-78106000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:78104000-78106000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:78104000-78106000	Enhancers	NH-A	brain
11	chr14:78104000-78106800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:78104200-78105600	Enhancers	NHDF-Ad	bronchial
13	chr14:78104200-78106000	Enhancers	Osteobl	bone
14	chr14:78104200-78107600	Weak transcription	Placenta Amnion	Placenta Amnion

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