Variant report

Variant	rs13155622
Chromosome Location	chr5:43273716-43273717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43272071..43275298-chr5:43277638..43280213,3	K562	blood:
2	chr5:43273394..43275748-chr5:43280476..43283890,4	MCF-7	breast:
3	chr5:43268969..43270629-chr5:43272352..43274524,2	K562	blood:
4	chr5:43268161..43270629-chr5:43271239..43274224,3	K562	blood:
5	chr5:43271201..43273995-chr5:43287069..43290020,2	K562	blood:

Variant related genes	Relation type
ENSG00000261604	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1025299	0.81[CHD][hapmap]
rs10461740	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs10462049	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10941618	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12657635	1.00[CEU][hapmap]
rs12657724	1.00[CEU][hapmap]
rs13154319	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13155023	1.00[AMR][1000 genomes]
rs13155888	1.00[CEU][hapmap]
rs13160431	1.00[CEU][hapmap]
rs13165339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13167052	1.00[AMR][1000 genomes]
rs13168053	1.00[CEU][hapmap]
rs13168456	1.00[AMR][1000 genomes]
rs13169908	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13173517	1.00[CEU][hapmap]
rs13174298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13180902	1.00[CEU][hapmap]
rs13186439	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs16873319	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs2086134	0.91[ASN][1000 genomes]
rs2290994	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs34150414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34238140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34379498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34497448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34762186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34880892	1.00[AMR][1000 genomes]
rs34965256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35033162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35142013	1.00[AMR][1000 genomes]
rs35350677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35748848	1.00[AMR][1000 genomes]
rs35756093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36036217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36062172	1.00[AMR][1000 genomes]
rs36097388	1.00[AMR][1000 genomes]
rs3733767	0.81[CHD][hapmap]
rs3797152	1.00[AMR][1000 genomes]
rs3806871	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4264950	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs4438885	1.00[CEU][hapmap]
rs4498257	1.00[CEU][hapmap]
rs6889653	1.00[CEU][hapmap]
rs6890108	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs71590642	1.00[AMR][1000 genomes]
rs71627597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71627598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71627599	1.00[AMR][1000 genomes]
rs71627600	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs71629106	1.00[AMR][1000 genomes]
rs7720858	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs9292877	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
4	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43246600-43281400	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:43257400-43274400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:43270200-43277400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:43271200-43280200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:43271400-43273800	Weak transcription	NHEK	skin
6	chr5:43273000-43275000	Enhancers	GM12878-XiMat	blood
7	chr5:43273600-43274400	Enhancers	Left Ventricle	heart
8	chr5:43273600-43279000	Enhancers	Fetal Heart	heart

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