Variant report

Variant	rs12478373
Chromosome Location	chr2:9855299-9855300
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9850271..9852517-chr2:9853774..9855814,2	K562	blood:
2	chr2:9854729..9857337-chr2:9862471..9865403,2	K562	blood:
3	chr2:9852433..9855684-chr2:9858975..9863152,3	K562	blood:
4	chr2:9768827..9772681-chr2:9851903..9856866,5	K562	blood:
5	chr2:9851396..9853236-chr2:9853754..9855301,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10186640	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10754954	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929606	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11685771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12053215	0.87[ASN][1000 genomes]
rs12466375	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12476232	0.82[MEX][hapmap]
rs12476775	0.87[ASN][1000 genomes]
rs13025476	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17592239	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34840654	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35501269	0.94[ASN][1000 genomes]
rs35690179	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35969985	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4605345	0.94[CHB][hapmap];0.90[CHD][hapmap];0.86[ASN][1000 genomes]
rs4669429	0.82[MEX][hapmap]
rs4669444	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6715057	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6736234	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9789690	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9845400-9860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:9851400-9855400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:9852800-9855400	Weak transcription	Right Atrium	heart
4	chr2:9854200-9856200	Enhancers	K562	blood
5	chr2:9854600-9855800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:9854800-9855800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:9854800-9855800	Enhancers	Fetal Heart	heart
8	chr2:9855000-9855600	Enhancers	Fetal Intestine Small	intestine
9	chr2:9855200-9855600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:9855200-9855600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:9855200-9855600	Enhancers	Fetal Intestine Large	intestine
12	chr2:9855200-9856000	Enhancers	HUVEC	blood vessel

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