Variant report

Variant	rs58758423
Chromosome Location	chr19:52009142-52009143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51895053..51897765-chr19:52007493..52009642,2	K562	blood:

Variant related genes	Relation type
ENSG00000268889	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16982740	0.89[ASN][1000 genomes]
rs16982743	0.93[ASN][1000 genomes]
rs17305017	1.00[ASN][1000 genomes]
rs3752128	1.00[AMR][1000 genomes]
rs3752130	1.00[AMR][1000 genomes]
rs3752131	1.00[AMR][1000 genomes]
rs56815351	1.00[ASN][1000 genomes]
rs56937816	1.00[AMR][1000 genomes]
rs57219903	1.00[AMR][1000 genomes]
rs57446594	1.00[AMR][1000 genomes]
rs57867319	1.00[AMR][1000 genomes]
rs57897206	1.00[AMR][1000 genomes]
rs58124117	1.00[AMR][1000 genomes]
rs58356296	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58736474	1.00[AMR][1000 genomes]
rs58737585	1.00[AMR][1000 genomes]
rs58839528	1.00[AMR][1000 genomes]
rs59302710	1.00[ASN][1000 genomes]
rs59361053	1.00[AMR][1000 genomes]
rs59372820	0.89[ASN][1000 genomes]
rs59518378	1.00[AMR][1000 genomes]
rs60314341	1.00[AMR][1000 genomes]
rs60351338	1.00[AMR][1000 genomes]
rs60458262	1.00[AMR][1000 genomes]
rs60467951	0.88[ASN][1000 genomes]
rs60618267	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61235925	1.00[AMR][1000 genomes]
rs61489792	1.00[AMR][1000 genomes]
rs61511733	1.00[AMR][1000 genomes]
rs61553708	1.00[AMR][1000 genomes]
rs61656439	1.00[AMR][1000 genomes]
rs7247380	1.00[ASN][1000 genomes]
rs73051351	0.89[ASN][1000 genomes]
rs73560996	0.92[ASN][1000 genomes]
rs8100001	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv33175	chr19:52002098-52010839	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52002600-52015000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:52005000-52009400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr19:52007000-52010800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr19:52007800-52011000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr19:52008200-52010400	Enhancers	K562	blood
6	chr19:52008400-52010800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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