Variant report

Variant	rs56048525
Chromosome Location	chr2:144789411-144789412
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: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10173322	0.95[EUR][1000 genomes]
rs10197599	0.95[EUR][1000 genomes]
rs10439175	0.95[EUR][1000 genomes]
rs10439191	1.00[EUR][1000 genomes]
rs13406608	1.00[EUR][1000 genomes]
rs13406634	0.95[EUR][1000 genomes]
rs13411437	0.95[EUR][1000 genomes]
rs13415860	0.95[EUR][1000 genomes]
rs13416245	1.00[EUR][1000 genomes]
rs1344628	0.95[EUR][1000 genomes]
rs1429096	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1429098	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16823379	0.90[EUR][1000 genomes]
rs16823411	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16823476	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16823541	0.95[EUR][1000 genomes]
rs16848271	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16855315	0.95[EUR][1000 genomes]
rs2303544	0.95[EUR][1000 genomes]
rs28420848	1.00[EUR][1000 genomes]
rs28479091	1.00[EUR][1000 genomes]
rs28705915	1.00[EUR][1000 genomes]
rs3806478	1.00[EUR][1000 genomes]
rs3806479	1.00[EUR][1000 genomes]
rs3806480	1.00[EUR][1000 genomes]
rs4662361	1.00[EUR][1000 genomes]
rs4662362	1.00[EUR][1000 genomes]
rs4662363	1.00[EUR][1000 genomes]
rs4662368	0.95[EUR][1000 genomes]
rs4662369	1.00[EUR][1000 genomes]
rs55681388	0.91[EUR][1000 genomes]
rs55766236	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55803436	1.00[EUR][1000 genomes]
rs55922892	1.00[EUR][1000 genomes]
rs56181240	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56203039	1.00[EUR][1000 genomes]
rs56271766	1.00[EUR][1000 genomes]
rs56302598	0.84[EUR][1000 genomes]
rs56317913	1.00[EUR][1000 genomes]
rs56361359	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6707579	0.95[EUR][1000 genomes]
rs6726343	1.00[EUR][1000 genomes]
rs73008247	0.95[EUR][1000 genomes]
rs73964929	0.95[EUR][1000 genomes]
rs7563626	0.95[EUR][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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