Variant report

Variant	rs62116202
Chromosome Location	chr19:52022058-52022059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr19:52020685-52022098	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52016872..52019391-chr19:52020928..52022569,2	K562	blood:

Variant related genes	Relation type
ENSG00000268777	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10221507	0.96[ASN][1000 genomes]
rs11084084	0.96[ASN][1000 genomes]
rs11084085	0.96[ASN][1000 genomes]
rs12459644	0.84[ASN][1000 genomes]
rs12459648	0.82[ASN][1000 genomes]
rs12459809	0.84[ASN][1000 genomes]
rs12460000	0.82[ASN][1000 genomes]
rs12460678	1.00[ASN][1000 genomes]
rs12461433	1.00[ASN][1000 genomes]
rs12461762	0.96[ASN][1000 genomes]
rs12461773	0.96[ASN][1000 genomes]
rs12462094	0.81[ASN][1000 genomes]
rs12462104	0.94[ASN][1000 genomes]
rs12463035	0.96[ASN][1000 genomes]
rs12609761	0.89[ASN][1000 genomes]
rs12609762	0.89[ASN][1000 genomes]
rs17239287	1.00[ASN][1000 genomes]
rs1993462	0.94[ASN][1000 genomes]
rs2005199	0.92[ASN][1000 genomes]
rs2168642	0.81[AMR][1000 genomes]
rs2290659	0.96[ASN][1000 genomes]
rs2290661	0.96[ASN][1000 genomes]
rs2305771	0.94[ASN][1000 genomes]
rs4801872	1.00[ASN][1000 genomes]
rs4801875	0.82[ASN][1000 genomes]
rs4802802	1.00[ASN][1000 genomes]
rs4802803	0.96[ASN][1000 genomes]
rs4802808	0.84[ASN][1000 genomes]
rs4802809	0.84[ASN][1000 genomes]
rs55985514	0.84[ASN][1000 genomes]
rs56118193	0.84[ASN][1000 genomes]
rs62113284	0.96[ASN][1000 genomes]
rs62113286	0.82[ASN][1000 genomes]
rs62113288	0.82[ASN][1000 genomes]
rs62113289	0.82[ASN][1000 genomes]
rs62116203	1.00[ASN][1000 genomes]
rs62116204	1.00[ASN][1000 genomes]
rs62116205	0.96[ASN][1000 genomes]
rs73559130	1.00[ASN][1000 genomes]
rs73559152	0.96[ASN][1000 genomes]
rs73559183	0.94[ASN][1000 genomes]
rs8105348	0.84[ASN][1000 genomes]
rs8106598	0.81[AMR][1000 genomes]
rs8113077	0.84[ASN][1000 genomes]
rs9807820	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9807825	1.00[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62116202	SIGLEC12	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52020200-52023000	Weak transcription	Placenta	Placenta
2	chr19:52021400-52022200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr19:52022000-52023400	Strong transcription	Primary B cells from peripheral blood	blood

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