Variant report

Variant	rs61540783
Chromosome Location	chr19:56222243-56222244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56220618-56222298	PANC-1	pancreas:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56220865..56224676-chr19:56230629..56233910,4	K562	blood:
2	chr19:56214734..56218976-chr19:56219559..56224015,5	K562	blood:
3	chr19:56151864..56153785-chr19:56221311..56223786,2	MCF-7	breast:
4	chr19:56221006..56222567-chr19:56226500..56228203,2	K562	blood:
5	chr19:56153424..56156443-chr19:56220513..56224838,3	K562	blood:
6	chr19:56207378..56209442-chr19:56222061..56224992,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000267689	TF binding region
ENSG00000171425	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000203305	Chromatin interaction
ENSG00000268593	Chromatin interaction
ENSG00000267689	Chromatin interaction
ENSG00000267018	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs57728680	1.00[AMR][1000 genomes]
rs59066458	1.00[AMR][1000 genomes]
rs59103531	1.00[AMR][1000 genomes]
rs59221728	1.00[AMR][1000 genomes]
rs59316024	1.00[AMR][1000 genomes]
rs59565463	1.00[AMR][1000 genomes]
rs60314355	1.00[AMR][1000 genomes]
rs60831229	1.00[AMR][1000 genomes]
rs7256736	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73613271	1.00[AMR][1000 genomes]
rs73613277	1.00[AMR][1000 genomes]
rs73613290	1.00[AMR][1000 genomes]
rs73613291	1.00[AMR][1000 genomes]
rs73615028	1.00[AMR][1000 genomes]
rs73615038	1.00[AMR][1000 genomes]
rs73615044	1.00[AMR][1000 genomes]
rs73615090	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
2	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv1057383	chr19:56211031-56456028	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1060269	chr19:56220245-56321641	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1057857	chr19:56220876-56548518	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv544086	chr19:56220876-56548518	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv912505	chr19:56221584-56397196	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56212400-56224000	Weak transcription	HSMM	muscle
2	chr19:56215800-56228000	Weak transcription	Pancreas	Pancrea
3	chr19:56216400-56224400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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