Variant report

Variant	rs72852998
Chromosome Location	chr2:144789487-144789488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144788513..144790266-chr2:145115282..145116823,2	K562	blood:
2	chr2:144776426..144779774-chr2:144785571..144789625,5	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12613814	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12614766	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1427310	0.80[AMR][1000 genomes]
rs16823481	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16823487	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1861878	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1864245	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28544584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679451	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3820756	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55634187	0.81[ASN][1000 genomes]
rs55716423	0.86[ASN][1000 genomes]
rs55883773	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56090763	0.83[ASN][1000 genomes]
rs56120346	0.84[ASN][1000 genomes]
rs56136411	0.83[ASN][1000 genomes]
rs56166856	0.84[ASN][1000 genomes]
rs56395361	0.80[AMR][1000 genomes]
rs58738282	0.80[AMR][1000 genomes]
rs59687135	0.80[AMR][1000 genomes]
rs72852926	0.81[ASN][1000 genomes]
rs72852929	0.81[ASN][1000 genomes]
rs72852930	0.81[ASN][1000 genomes]
rs72852932	0.81[ASN][1000 genomes]
rs72852936	0.81[ASN][1000 genomes]
rs72852938	0.81[ASN][1000 genomes]
rs72852941	0.81[ASN][1000 genomes]
rs72852947	0.81[ASN][1000 genomes]
rs72852948	0.81[ASN][1000 genomes]
rs72852967	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72852969	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72852982	0.83[EUR][1000 genomes]
rs72852985	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72852992	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72852993	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72853001	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854129	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72854165	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72854176	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72854193	0.80[AMR][1000 genomes]
rs73962160	0.81[ASN][1000 genomes]
rs7608953	0.90[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	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144723000-144795600	Weak transcription	Primary T cells from cord blood	blood
2	chr2:144735800-144800400	Weak transcription	Ovary	ovary
3	chr2:144773800-144800600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:144780200-144791400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:144783600-144817000	Weak transcription	Aorta	Aorta

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