Variant report

Variant	rs10000610
Chromosome Location	chr4:159033175-159033176
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:159031275..159033687-chr4:159053603..159055452,2	MCF-7	breast:
2	chr4:158916515..158919078-chr4:159032970..159035902,2	K562	blood:
3	chr4:159015350..159017695-chr4:159032159..159035060,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10003459	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap]
rs10013448	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10027000	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.82[YRI][hapmap]
rs10049927	0.92[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap]
rs12512643	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13126694	0.81[CHB][hapmap];0.91[MEX][hapmap]
rs14202	0.89[LWK][hapmap]
rs2346782	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4077776	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap]
rs4388135	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4574459	0.89[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs4631100	0.89[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs4691454	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4691460	0.94[CHB][hapmap];0.87[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes]
rs6536298	0.80[CEU][hapmap];0.82[CHD][hapmap]
rs6814979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6830475	0.94[CHB][hapmap];0.87[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs6833295	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6843728	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.90[YRI][hapmap]
rs7657303	0.92[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs7692254	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9968557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[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	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	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
4	nsv880293	chr4:159012365-159049020	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10000610	DKFZp434L142	cis	multi-tissue	Pritchard

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159030000-159034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:159031400-159042000	Weak transcription	Fetal Heart	heart
3	chr4:159031800-159036200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:159032000-159033800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:159032400-159033600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:159032600-159035600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:159032800-159035000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:159032800-159035400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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