Variant report

Variant	rs571128
Chromosome Location	chr11:65014843-65014844
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65009967..65012363-chr11:65012560..65014972,3	K562	blood:
2	chr11:65011226..65014222-chr11:65014565..65017587,4	K562	blood:
3	chr11:65013094..65015449-chr11:65027187..65029079,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10750761	0.86[ASN][1000 genomes]
rs1195733	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1633466	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1783486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1858783	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1877450	0.82[ASN][1000 genomes]
rs239257	0.84[ASN][1000 genomes]
rs239261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2904967	1.00[JPT][hapmap]
rs2904979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2904980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2904981	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2904982	1.00[CHB][hapmap]
rs2904983	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2904984	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2904986	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2957111	0.88[ASN][1000 genomes]
rs3015994	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3015997	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3015999	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3016000	0.83[EUR][1000 genomes]
rs3016001	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3016002	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs482842	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs487568	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs487989	1.00[JPT][hapmap]
rs488289	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs499027	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs503277	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs506280	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs507005	1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs526502	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs541829	0.85[ASN][1000 genomes]
rs554122	1.00[JPT][hapmap]
rs560097	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs592050	1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs611910	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs625427	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs626555	1.00[JPT][hapmap];0.96[YRI][hapmap]
rs626802	1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs630055	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs655433	1.00[JPT][hapmap]
rs667341	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs668735	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs673147	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs676573	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7111907	0.82[ASN][1000 genomes]
rs7116674	1.00[CHB][hapmap]
rs8638	1.00[JPT][hapmap];0.97[YRI][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs571128	POLA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65009800-65016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:65011600-65018000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:65014200-65015000	Weak transcription	Esophagus	oesophagus
4	chr11:65014400-65015200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:65014400-65017800	Weak transcription	HepG2	liver
6	chr11:65014600-65015000	Weak transcription	Fetal Intestine Small	intestine

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