Variant report

Variant	rs4128534
Chromosome Location	chr4:57399324-57399325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57299474..57303800-chr4:57395386..57399526,7	K562	blood:
2	chr4:57398608..57402645-chr4:57403747..57406858,5	MCF-7	breast:
3	chr4:57396793..57399968-chr4:57400354..57402510,5	K562	blood:

Variant related genes	Relation type
ENSG00000128059	Chromatin interaction
ENSG00000128050	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11934636	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs12644331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12644498	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs12650288	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs1579019	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs17086759	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs17086773	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs17086801	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs17086804	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs17086830	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs17086838	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs3733326	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs3796540	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs3796550	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs4076103	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs4473708	0.83[JPT][hapmap]
rs4631106	0.92[JPT][hapmap]
rs56354896	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58459975	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6830145	1.00[CEU][hapmap];0.91[JPT][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	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv829941	chr4:57359551-57553136	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4128534	SRP72	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57397800-57410600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:57398200-57408000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:57398400-57399400	Enhancers	K562	blood
4	chr4:57398400-57399800	Enhancers	Fetal Heart	heart

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