Variant report

Variant	rs9609268
Chromosome Location	chr22:31759033-31759034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31740831..31745371-chr22:31755753..31759335,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213888	Chromatin interaction
ENSG00000100105	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1001599	0.82[EUR][1000 genomes]
rs1034588	0.83[EUR][1000 genomes]
rs12152166	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13054220	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13057504	0.80[EUR][1000 genomes]
rs131205	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1858821	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2040533	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2073857	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2078803	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2106294	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2228619	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2273249	0.81[EUR][1000 genomes]
rs2273251	0.81[EUR][1000 genomes]
rs2283879	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2283881	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2413035	0.83[EUR][1000 genomes]
rs2413046	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2413047	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2413049	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2899164	0.90[EUR][1000 genomes]
rs34545960	0.88[EUR][1000 genomes]
rs4141404	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4299418	0.82[EUR][1000 genomes]
rs4603880	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820042	0.83[EUR][1000 genomes]
rs4820043	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4820951	0.83[EUR][1000 genomes]
rs4820962	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820963	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749229	0.83[EUR][1000 genomes]
rs5749265	0.89[EUR][1000 genomes]
rs5749267	0.88[EUR][1000 genomes]
rs5749268	0.88[EUR][1000 genomes]
rs5749270	0.88[EUR][1000 genomes]
rs5753521	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753543	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753597	0.89[EUR][1000 genomes]
rs5753601	0.89[EUR][1000 genomes]
rs5753609	0.82[EUR][1000 genomes]
rs5753610	0.88[EUR][1000 genomes]
rs5753612	0.87[EUR][1000 genomes]
rs5753613	0.87[EUR][1000 genomes]
rs5753615	0.81[EUR][1000 genomes]
rs5994394	0.88[EUR][1000 genomes]
rs5997902	0.80[EUR][1000 genomes]
rs5997912	0.83[EUR][1000 genomes]
rs5997933	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5997939	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997949	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71324184	0.90[EUR][1000 genomes]
rs714909	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs715510	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7287267	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7293171	0.88[EUR][1000 genomes]
rs737684	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs737887	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737888	0.83[EUR][1000 genomes]
rs8135344	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8135347	0.80[EUR][1000 genomes]
rs8138596	0.95[EUR][1000 genomes]
rs8141150	0.88[EUR][1000 genomes]
rs9606830	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9606831	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9606839	0.88[EUR][1000 genomes]
rs9609254	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9609257	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9609264	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9609265	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9609266	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9609267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609276	0.87[EUR][1000 genomes]
rs9609277	0.88[EUR][1000 genomes]
rs9621235	0.80[AMR][1000 genomes];0.85[EUR][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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9609268	DRG1	Cis_1M	lymphoblastoid	RTeQTL
rs9609268	SFI1	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31744000-31762200	Weak transcription	Right Atrium	heart
2	chr22:31756400-31763800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr22:31758200-31759600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:31758800-31759800	Weak transcription	HepG2	liver

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