Variant report

Variant	rs10211482
Chromosome Location	chr2:189121777-189121778
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:
2	chr2:189121043..189124005-chr2:189124856..189127176,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10153666	1.00[AMR][1000 genomes]
rs10153862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10168466	0.80[AFR][1000 genomes]
rs10171583	1.00[AMR][1000 genomes]
rs10174521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10184797	1.00[AMR][1000 genomes]
rs10190630	1.00[AMR][1000 genomes]
rs10192679	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10196886	0.80[AFR][1000 genomes]
rs10197598	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs10198965	1.00[AMR][1000 genomes]
rs10211425	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10439261	1.00[AMR][1000 genomes]
rs13386579	1.00[AMR][1000 genomes]
rs13390367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391799	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13392080	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13393442	1.00[YRI][hapmap]
rs13399903	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13400817	0.80[AFR][1000 genomes]
rs13401242	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401321	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13401975	1.00[AMR][1000 genomes]
rs13402240	1.00[AMR][1000 genomes]
rs13403672	1.00[AMR][1000 genomes]
rs13404901	1.00[AMR][1000 genomes]
rs13407674	0.80[AFR][1000 genomes]
rs13411351	1.00[AMR][1000 genomes]
rs13414813	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13418323	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13423258	0.80[AFR][1000 genomes]
rs13423468	1.00[AMR][1000 genomes]
rs13424443	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28528331	1.00[AMR][1000 genomes]
rs59080597	1.00[AMR][1000 genomes]
rs6705869	1.00[AMR][1000 genomes]
rs6710795	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742748	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6743691	0.80[AFR][1000 genomes]
rs6748075	1.00[AMR][1000 genomes]
rs6755644	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6759147	0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589600	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9288156	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv511165	chr2:189112811-189122229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3457161	chr2:189117807-189122905	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3522728	chr2:189118457-189122255	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3457165	chr2:189118732-189122080	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3522731	chr2:189118957-189122155	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv511829	chr2:189119345-189121787	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10211482	FERMT2	trans	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189119800-189122600	Weak transcription	Fetal Heart	heart
2	chr2:189121200-189121800	Enhancers	K562	blood
3	chr2:189121600-189128600	Weak transcription	Aorta	Aorta

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