Variant report

Variant	rs6848159
Chromosome Location	chr4:158972282-158972283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:158970864..158972873-chr4:158978428..158979930,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10003459	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10003566	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10005656	0.87[ASN][1000 genomes]
rs10005901	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10027000	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10049927	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11100147	0.84[ASN][1000 genomes]
rs12503001	0.86[ASN][1000 genomes]
rs12648000	0.84[ASN][1000 genomes]
rs13106004	0.86[ASN][1000 genomes]
rs13106234	0.86[ASN][1000 genomes]
rs13130663	0.84[ASN][1000 genomes]
rs13137826	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13144391	0.84[ASN][1000 genomes]
rs28477319	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28514324	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28635553	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34237515	0.86[ASN][1000 genomes]
rs4072170	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4077776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4362869	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4388135	0.88[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4487405	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4504305	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4521391	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4574459	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4615226	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4631100	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4691447	0.84[AMR][1000 genomes]
rs4691451	0.84[ASN][1000 genomes]
rs4691452	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4691460	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs6536298	0.81[CEU][hapmap];0.86[CHD][hapmap];0.83[TSI][hapmap]
rs66490968	0.84[AMR][1000 genomes]
rs6814979	0.92[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs6830475	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs6833295	0.88[CEU][hapmap];0.87[CHB][hapmap]
rs6838282	0.84[ASN][1000 genomes]
rs6843728	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6844184	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6847800	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7656059	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7657303	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7673290	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7682867	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7692254	0.84[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs9968557	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[ASN][1000 genomes]
rs9991381	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9995402	0.86[ASN][1000 genomes]

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	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6848159	DKFZp434L142	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158972000-158972400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:158972000-158972400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:158972000-158972600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:158972000-158972600	Flanking Active TSS	NHDF-Ad	bronchial
5	chr4:158972000-158972800	Enhancers	Osteobl	bone
6	chr4:158972000-158973000	Enhancers	Adipose Nuclei	Adipose
7	chr4:158972000-158973200	Enhancers	NHLF	lung
8	chr4:158972000-158973800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:158972000-158974600	Enhancers	HSMM	muscle
10	chr4:158972000-158974600	Enhancers	HSMMtube	muscle
11	chr4:158972200-158972600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:158972200-158973200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:158972200-158973200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:158972200-158973200	Enhancers	NH-A	brain
15	chr4:158972200-158973800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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