Variant report

Variant	rs2042315
Chromosome Location	chr5:59699211-59699212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1115372	0.86[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12189147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159422	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1363862	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1423247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477352	0.82[ASN][1000 genomes]
rs17839379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs364917	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs371424	0.82[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs37684	0.89[JPT][hapmap]
rs37685	0.85[ASN][1000 genomes]
rs37691	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs37693	0.83[ASN][1000 genomes]
rs37695	0.86[ASN][1000 genomes]
rs37700	0.81[ASN][1000 genomes]
rs37702	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs401207	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs404202	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs411255	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs42968	0.86[ASN][1000 genomes]
rs446883	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6860277	0.84[YRI][hapmap]
rs6860887	0.87[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs789389	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs789395	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs789396	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs789615	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs918590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs918591	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1015381	chr5:59678425-59772485	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1034331	chr5:59678773-59773467	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59686600-59700200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:59695000-59712600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:59696000-59713200	Weak transcription	Aorta	Aorta
4	chr5:59698600-59700600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:59698800-59699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:59699000-59699400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:59699000-59701200	Enhancers	HepG2	liver
8	chr5:59699200-59700400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:59699200-59700800	Enhancers	HMEC	breast

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