Variant report

Variant	rs7250319
Chromosome Location	chr19:42178945-42178946
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42175293..42177532-chr19:42178658..42181248,2	K562	blood:
2	chr19:42170762..42173510-chr19:42176907..42179632,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1008577	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10403314	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10407280	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10422983	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10425592	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12609443	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12609822	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12610950	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1548720	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1548721	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1548722	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1548723	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1548724	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1860329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2109073	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2109074	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2109075	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2109076	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2215284	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34596329	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3786868	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826894	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4416132	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60613767	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6508990	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71334987	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7245419	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7251886	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8102488	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8104755	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8104781	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8113799	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42174800-42181800	Weak transcription	Colonic Mucosa	Colon
2	chr19:42178600-42185800	Weak transcription	Rectal Mucosa Donor 31	rectum

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