Variant report

Variant	rs2352725
Chromosome Location	chr3:143054341-143054342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143051394..143054919-chr3:143057283..143061130,3	K562	blood:

Variant related genes	Relation type
ENSG00000240012	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10446325	0.92[CHB][hapmap];0.95[JPT][hapmap]
rs10804689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10804690	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10804691	0.92[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10935488	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10935489	0.92[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs11915857	0.83[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs12493355	0.92[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12633063	0.83[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs13066661	0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs13067348	0.84[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs1393071	0.92[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs1501628	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1501629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1550547	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16853428	0.83[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs16853431	0.95[ASN][1000 genomes]
rs1837784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2165518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2883015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440163	0.92[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs6440164	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768217	0.84[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6769555	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6770495	0.80[CHB][hapmap]
rs6806677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs729509	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs729511	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7632299	0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs7652901	0.82[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9332458	0.92[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs963885	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs968586	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968587	0.96[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143046600-143056200	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143049200-143056200	Weak transcription	HSMMtube	muscle
3	chr3:143049200-143056400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:143049200-143061200	Weak transcription	Fetal Thymus	thymus
5	chr3:143050200-143056200	Weak transcription	Ovary	ovary
6	chr3:143051200-143056200	Weak transcription	NHDF-Ad	bronchial
7	chr3:143052600-143061600	Weak transcription	Dnd41	blood
8	chr3:143053600-143056000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:143054200-143054600	ZNF genes & repeats	Fetal Lung	lung

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