Variant report

Variant	rs6792070
Chromosome Location	chr3:132910276-132910277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr3:132910230-132911005	SH-SY5Y	brain:	n/a	n/a
2	MAFK	chr3:132910078-132910309	IMR90	lung:	n/a	chr3:132910171-132910191 chr3:132910176-132910192 chr3:132910174-132910188 chr3:132910173-132910189 chr3:132910176-132910191
3	MAFK	chr3:132910018-132910349	HepG2	liver:	n/a	chr3:132910171-132910191 chr3:132910176-132910192 chr3:132910174-132910188 chr3:132910173-132910189 chr3:132910176-132910191
4	MAFK	chr3:132910054-132910339	HepG2	liver:	n/a	chr3:132910171-132910191 chr3:132910176-132910192 chr3:132910174-132910188 chr3:132910173-132910189 chr3:132910176-132910191
5	GATA3	chr3:132910270-132910559	SH-SY5Y	brain:	n/a	n/a
6	MAFF	chr3:132910056-132910337	HepG2	liver:	n/a	chr3:132910175-132910193 chr3:132910174-132910188

Variant related genes	Relation type
TMEM108	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12695588	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13077843	1.00[JPT][hapmap]
rs13323117	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1450049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1868602	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536096	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539256	0.81[ASN][1000 genomes]
rs28552867	0.95[ASN][1000 genomes]
rs28672850	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6792137	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6809255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71315690	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7618220	1.00[JPT][hapmap]
rs9817924	0.81[ASN][1000 genomes]
rs9820287	0.85[ASN][1000 genomes]
rs9837497	0.81[ASN][1000 genomes]
rs9838197	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9848953	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs9852954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9852976	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858099	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877365	0.85[ASN][1000 genomes]
rs9877504	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000962	chr3:132115062-132919907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv530055	chr3:132380878-132982343	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr3:132899600-132912000	Enhancers	Fetal Brain Male	brain
2	chr3:132903000-132910800	Weak transcription	Lung	lung
3	chr3:132904200-132910400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:132904800-132910800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:132905800-132910400	Weak transcription	Fetal Lung	lung
6	chr3:132907800-132910800	Weak transcription	Psoas Muscle	Psoas
7	chr3:132909800-132913600	Weak transcription	Fetal Brain Female	brain
8	chr3:132910200-132912000	Enhancers	Fetal Heart	heart

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