Variant report

Variant	rs72991017
Chromosome Location	chr3:140638588-140638589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140638197..140639836-chr3:140660007..140662165,2	K562	blood:
2	chr3:140630903..140633171-chr3:140636198..140638859,2	K562	blood:
3	chr3:140630037..140632900-chr3:140637525..140640287,2	K562	blood:

Variant related genes	Relation type
ENSG00000114120	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12486226	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12491336	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1519191	0.96[EUR][1000 genomes]
rs1519192	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1519194	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1568338	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56683057	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59222505	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60354869	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6769114	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793318	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72989087	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72989089	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72989090	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72989093	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72989095	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72989097	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72989101	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72991013	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72991014	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72991016	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72991019	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7624649	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7625667	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7628638	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628654	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7650615	0.93[AFR][1000 genomes];0.97[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	nsv591865	chr3:140396022-140728850	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1005522	chr3:140454632-140685915	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv536732	chr3:140454632-140685915	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140636800-140642000	Weak transcription	Left Ventricle	heart
2	chr3:140637400-140641200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:140637400-140642000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:140638000-140641200	Weak transcription	Pancreas	Pancrea

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