Variant report

Variant	rs55851748
Chromosome Location	chr19:21797802-21797803
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	chr19:21784507..21786165-chr19:21795628..21798618,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11673280	0.86[ASN][1000 genomes]
rs11881160	0.85[ASN][1000 genomes]
rs11881176	0.85[ASN][1000 genomes]
rs11881813	0.85[ASN][1000 genomes]
rs12150968	0.86[ASN][1000 genomes]
rs12459011	0.86[ASN][1000 genomes]
rs12459715	0.81[ASN][1000 genomes]
rs12463354	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12463384	0.86[ASN][1000 genomes]
rs12973209	0.81[ASN][1000 genomes]
rs1850937	0.81[ASN][1000 genomes]
rs2102922	0.81[ASN][1000 genomes]
rs2139530	0.81[ASN][1000 genomes]
rs2359157	0.81[ASN][1000 genomes]
rs34015922	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35092215	0.84[ASN][1000 genomes]
rs4809154	0.86[ASN][1000 genomes]
rs57235280	0.81[ASN][1000 genomes]
rs59803919	0.86[ASN][1000 genomes]
rs61461318	0.86[ASN][1000 genomes]
rs62108370	0.85[ASN][1000 genomes]
rs62108372	0.84[ASN][1000 genomes]
rs6511273	0.81[ASN][1000 genomes]
rs6511275	0.83[ASN][1000 genomes]
rs71333832	0.86[ASN][1000 genomes]
rs7246154	0.81[ASN][1000 genomes]
rs7248367	0.81[ASN][1000 genomes]
rs7249639	0.85[ASN][1000 genomes]
rs7249775	0.86[ASN][1000 genomes]
rs7251076	0.86[ASN][1000 genomes]
rs7252080	0.83[ASN][1000 genomes]
rs7252081	0.84[ASN][1000 genomes]
rs7252104	0.84[ASN][1000 genomes]
rs7252205	0.86[ASN][1000 genomes]
rs7252706	0.86[ASN][1000 genomes]
rs7255395	0.86[ASN][1000 genomes]
rs7255521	0.85[ASN][1000 genomes]
rs7257246	0.81[ASN][1000 genomes]
rs7259763	0.86[ASN][1000 genomes]
rs7259888	0.86[ASN][1000 genomes]
rs7260175	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7260391	0.81[ASN][1000 genomes]
rs7260514	0.81[ASN][1000 genomes]
rs8100536	0.84[ASN][1000 genomes]
rs8101255	0.86[ASN][1000 genomes]
rs8101857	0.85[ASN][1000 genomes]
rs8110320	0.81[ASN][1000 genomes]
rs8111076	0.81[ASN][1000 genomes]
rs8112158	0.81[ASN][1000 genomes]
rs9749033	0.81[ASN][1000 genomes]
rs9749043	0.81[ASN][1000 genomes]
rs9749067	0.81[ASN][1000 genomes]
rs9749163	0.81[ASN][1000 genomes]
rs9749167	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers 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	18 gene(s)	inside rSNPs	diseases
7	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv911423	chr19:21783995-21858994	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv528643	chr19:21796943-21798441	Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv458525	chr19:21796943-22019697	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv578969	chr19:21796943-22019697	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs55851748	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs55851748	RP11-678G14.3	cis	lung	GTEx
rs55851748	RP11-678G14.2	cis	lung	GTEx
rs55851748	RP11-678G14.3	cis	Whole Blood	GTEx
rs55851748	ZNF429	cis	Whole Blood	GTEx
rs55851748	RP11-420K14.2	cis	Whole Blood	GTEx
rs55851748	LOC400680	Cis_1M	lymphoblastoid	RTeQTL
rs55851748	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs55851748	ZNF429	cis	lung	GTEx
rs55851748	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs55851748	LINC00664	cis	Whole Blood	GTEx
rs55851748	RP11-420K14.2	cis	lung	GTEx
rs55851748	CTD-2561J22.5	cis	Esophagus Mucosa	GTEx
rs55851748	ZNF429	cis	Esophagus Mucosa	GTEx
rs55851748	CTD-2561J22.5	cis	Artery Tibial	GTEx
rs55851748	ZNF100	cis	Muscle Skeletal	GTEx
rs55851748	CTD-2626G11.2	cis	Skin Sun Exposed Lower leg	GTEx
rs55851748	ZNF493	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21796000-21800600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:21796800-21800000	Weak transcription	Dnd41	blood
3	chr19:21797400-21798800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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