Variant report

Variant	rs11895153
Chromosome Location	chr2:171575671-171575672
allele	A/G
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	TEAD4	chr2:171574127-171575775	HepG2	liver:	n/a	n/a
2	HEY1	chr2:171566552-171576261	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
3	POLR2A	chr2:171566818-171576833	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:171571636-171576275	HepG2	liver:	n/a	n/a
5	HEY1	chr2:171575609-171576243	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:171571166-171577125	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:171575324-171575681	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171573568..171575819-chr2:171620402..171623627,3	K562	blood:

Variant related genes	Relation type
LINC01124	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10165379	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10175644	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10194303	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930438	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12612710	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12613472	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12619010	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12994793	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13028382	0.83[EUR][1000 genomes]
rs1362489	0.86[EUR][1000 genomes]
rs1362490	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs1894919	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34002163	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3749036	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4132720	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6433235	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6433238	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6433246	0.82[EUR][1000 genomes]
rs6433247	0.85[EUR][1000 genomes]
rs6433248	0.82[EUR][1000 genomes]
rs66833017	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6711176	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs6723611	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6726371	0.86[EUR][1000 genomes]
rs6733809	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6738022	0.87[EUR][1000 genomes]
rs6757195	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7580460	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7608979	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs869954	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs953680	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs954321	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs9973711	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875409	chr2:171565376-171577859	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11895153	MYO3B	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171570000-171576200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:171570200-171576200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:171570400-171576200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:171571800-171577000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:171574000-171620800	Weak transcription	Pancreas	Pancrea
6	chr2:171574200-171576000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:171574400-171576200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:171574600-171585600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:171575200-171576800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:171575600-171575800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:171575600-171576200	Flanking Active TSS	HepG2	liver

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