Variant report

Variant	rs4589712
Chromosome Location	chr2:185009082-185009083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10931121	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12470103	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12471114	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12471151	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12473588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476732	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13000012	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13008457	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13016522	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13018219	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13021358	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1526198	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1526211	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1526212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534213	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2369202	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34311580	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34960422	0.83[AMR][1000 genomes]
rs35555932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60317026	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875487	chr2:184737282-185186670	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv834482	chr2:184939548-185066635	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv998904	chr2:184955270-185318483	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1012174	chr2:184956114-185316664	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875488	chr2:184975795-185091908	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv459976	chr2:184995947-185067733	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv583993	chr2:184995947-185316457	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185009000-185018400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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