Variant report

Variant	rs2123675
Chromosome Location	chr11:59148407-59148408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11604216	0.91[EUR][1000 genomes]
rs12418613	0.81[EUR][1000 genomes]
rs12420443	0.81[EUR][1000 genomes]
rs12420477	0.81[EUR][1000 genomes]
rs12801196	0.81[EUR][1000 genomes]
rs12806497	0.81[EUR][1000 genomes]
rs12808401	0.81[EUR][1000 genomes]
rs12808731	0.81[EUR][1000 genomes]
rs1589600	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1589601	0.81[EUR][1000 genomes]
rs1608210	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1608211	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1608212	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17498652	0.81[EUR][1000 genomes]
rs1851513	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1879929	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1955070	0.81[EUR][1000 genomes]
rs1972149	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2040326	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2091008	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2123676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2198451	0.81[EUR][1000 genomes]
rs34037092	0.81[EUR][1000 genomes]
rs35872497	0.81[EUR][1000 genomes]
rs4536240	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4939272	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61902489	0.81[EUR][1000 genomes]
rs61902558	0.80[EUR][1000 genomes]
rs61902559	0.91[EUR][1000 genomes]
rs7103331	0.90[EUR][1000 genomes]
rs7105556	0.96[CEU][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7121582	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7934882	0.81[EUR][1000 genomes]
rs7944892	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7949055	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv541052	chr11:59119390-59185103	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1039690	chr11:59124719-59178832	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1047952	chr11:59124719-59221606	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59147800-59148600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:59148200-59148800	Enhancers	Primary B cells from cord blood	blood
3	chr11:59148400-59148800	Flanking Active TSS	GM12878-XiMat	blood

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