Variant report

Variant	rs6706156
Chromosome Location	chr2:31380955-31380956
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	USF1	chr2:31380931-31381138	H1-hESC	embryonic stem cell:	n/a	n/a
2	EBF1	chr2:31380659-31381058	GM12878	blood:	n/a	chr2:31380826-31380836 chr2:31380827-31380836 chr2:31380825-31380836 chr2:31380825-31380838 chr2:31380827-31380836

Variant related genes	Relation type
GALNT14	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10190164	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10201005	0.94[JPT][hapmap]
rs12105231	0.89[ASN][1000 genomes]
rs12989636	0.95[JPT][hapmap]
rs13408448	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1562023	0.89[ASN][1000 genomes]
rs17010764	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2008535	1.00[JPT][hapmap]
rs57938947	0.87[ASN][1000 genomes]
rs6543605	0.94[JPT][hapmap]
rs6543606	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6543607	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6543609	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6708641	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6743542	1.00[JPT][hapmap]
rs6747497	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7560152	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7564367	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7596724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs956747	0.81[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv873771	chr2:31363732-31416582	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv873772	chr2:31363732-31417863	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv873773	chr2:31363732-31426449	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv873774	chr2:31363732-31432367	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873775	chr2:31363732-31439443	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31378800-31383200	Weak transcription	Fetal Brain Male	brain
2	chr2:31380800-31381400	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links