Variant report

Variant	rs1633466
Chromosome Location	chr11:65016173-65016174
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64971198..64974258-chr11:65016139..65019477,3	MCF-7	breast:
2	chr11:65010575..65012726-chr11:65016073..65017587,2	K562	blood:
3	chr11:64990436..64992901-chr11:65015967..65018929,2	MCF-7	breast:
4	chr11:65011226..65014222-chr11:65014565..65017587,4	K562	blood:
5	chr11:64881935..64884142-chr11:65015937..65018143,2	K562	blood:

Variant related genes	Relation type
ENSG00000014216	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10750761	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1152611	0.82[EUR][1000 genomes]
rs1195733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12269727	0.81[EUR][1000 genomes]
rs1783486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1858783	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1877450	0.85[ASN][1000 genomes]
rs239257	0.87[ASN][1000 genomes]
rs239261	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2904967	0.90[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2904979	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2904980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2904981	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2904982	1.00[CHB][hapmap]
rs2904983	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2904984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2904986	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2957111	0.91[ASN][1000 genomes]
rs3015997	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3015999	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3016000	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3016001	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3016002	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4149813	0.81[EUR][1000 genomes]
rs482842	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487568	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487989	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs488289	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs499027	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs503277	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs506280	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs507005	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs509303	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs526502	0.91[CEU][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs541829	0.89[ASN][1000 genomes]
rs554122	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs560097	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs571128	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs592050	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs603286	0.81[EUR][1000 genomes]
rs611910	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs625427	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs626555	0.90[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs626802	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs630055	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs636928	0.82[EUR][1000 genomes]
rs655433	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs667341	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs668735	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs673147	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs676573	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7111907	0.86[ASN][1000 genomes]
rs7116674	1.00[CHB][hapmap]
rs8638	0.88[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv976461	chr11:65000821-65054446	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1633466	POLA2	Cis_1M	lymphoblastoid	RTeQTL
rs1633466	POLA2	cis	multi-tissue	Pritchard

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65011600-65018000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:65014400-65017800	Weak transcription	HepG2	liver
3	chr11:65015200-65017800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:65015200-65017800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:65015200-65028600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:65016000-65016200	Enhancers	Esophagus	oesophagus
7	chr11:65016000-65016400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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