Variant report

Variant	rs387504
Chromosome Location	chr19:44445988-44445989
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	chr19:44436895..44439895-chr19:44441989..44446594,5	K562	blood:
2	chr19:44437095..44439716-chr19:44445357..44448833,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124459	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2299936	0.80[AMR][1000 genomes]
rs2429734	0.84[ASN][1000 genomes]
rs366431	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs368492	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs376655	0.81[ASN][1000 genomes]
rs377934	0.82[EUR][1000 genomes]
rs381220	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs385202	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs385578	0.85[ASN][1000 genomes]
rs386249	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs386747	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs388547	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs391961	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs394132	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs394380	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs395419	0.85[ASN][1000 genomes]
rs396188	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs400591	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs401770	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs415867	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs424041	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs437700	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs439417	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs441742	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs442543	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs444816	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs445865	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs453682	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs454376	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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