Variant report

Variant	rs12109075
Chromosome Location	chr5:43245153-43245154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43119802..43122333-chr5:43244382..43246743,2	MCF-7	breast:
2	chr5:43244010..43245897-chr5:43482270..43484298,3	K562	blood:
3	chr5:43239013..43240653-chr5:43243952..43245634,2	K562	blood:
4	chr5:43238537..43240317-chr5:43243004..43245569,2	MCF-7	breast:
5	chr5:43244137..43245817-chr5:43282614..43284616,2	K562	blood:
6	chr5:43243517..43246248-chr5:43252850..43254500,2	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10044563	0.82[EUR][1000 genomes]
rs10078527	0.88[YRI][hapmap]
rs10941608	0.80[CHB][hapmap]
rs10941613	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11748187	0.80[CHB][hapmap]
rs12189053	0.84[ASN][1000 genomes]
rs13153462	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13154563	0.82[AMR][1000 genomes]
rs13171654	0.87[ASN][1000 genomes]
rs13176855	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1532331	0.88[YRI][hapmap]
rs1670791	0.81[EUR][1000 genomes]
rs316405	0.80[CHB][hapmap]
rs34831299	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35953019	0.92[ASW][hapmap];0.88[CHD][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap]
rs3733839	0.80[CHB][hapmap]
rs4368737	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4498259	0.88[YRI][hapmap]
rs6414900	0.85[YRI][hapmap]
rs670206	0.80[CHB][hapmap]
rs6862639	0.88[YRI][hapmap]
rs6871636	0.92[ASW][hapmap];0.83[CHD][hapmap];0.88[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs6884303	0.88[YRI][hapmap]
rs6887997	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6894506	0.82[CHB][hapmap]
rs7700772	0.82[AMR][1000 genomes]
rs7701510	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7703840	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7704132	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12109075	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43209600-43245200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:43231000-43245600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:43232200-43245400	Weak transcription	Brain Anterior Caudate	brain
5	chr5:43232800-43246000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:43233000-43245200	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:43233200-43245400	Weak transcription	Brain Substantia Nigra	brain
8	chr5:43234200-43245400	Weak transcription	Brain Angular Gyrus	brain
9	chr5:43237200-43245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:43242600-43245400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:43243400-43245400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:43243600-43245200	Enhancers	GM12878-XiMat	blood
13	chr5:43243800-43245600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:43245000-43245600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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