Variant report

Variant	rs4809145
Chromosome Location	chr19:21780709-21780710
allele	A/C
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	CEBPB	chr19:21779625-21780840	HepG2	liver:	n/a	n/a
2	CEBPB	chr19:21780602-21780802	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21780063..21781970-chr19:21783251..21784988,3	K562	blood:

Variant related genes	Relation type
ENSG00000268240	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10854050	0.89[AFR][1000 genomes]
rs10854051	0.89[AFR][1000 genomes]
rs11085462	0.89[AFR][1000 genomes]
rs11085465	0.89[AFR][1000 genomes]
rs11085468	0.89[AFR][1000 genomes]
rs1114305	0.92[CHB][hapmap]
rs11665855	0.82[ASN][1000 genomes]
rs11668606	0.89[AFR][1000 genomes]
rs11671579	0.89[AFR][1000 genomes]
rs11881567	0.82[ASN][1000 genomes]
rs1401926	0.81[JPT][hapmap]
rs2562402	0.92[CHB][hapmap]
rs2562456	0.92[CHB][hapmap]
rs2650793	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs2650805	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs2914626	0.92[CHB][hapmap]
rs2968046	0.92[CHB][hapmap]
rs2968082	0.92[CHB][hapmap]
rs4809144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55771551	0.89[AFR][1000 genomes]
rs57879343	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60206762	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62110205	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62110214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110246	0.82[ASN][1000 genomes]
rs6511253	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs7259708	0.89[AFR][1000 genomes]
rs8109940	0.81[JPT][hapmap]
rs950504	0.81[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	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	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv960938	chr19:21766627-21785276	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4809145	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs4809145	RP11-678G14.3	cis	Esophagus Mucosa	GTEx
rs4809145	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs4809145	ZNF708	cis	Muscle Skeletal	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21770000-21786600	Weak transcription	Primary T cells from cord blood	blood
2	chr19:21770200-21786600	Weak transcription	Right Ventricle	heart
3	chr19:21771000-21786200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:21771200-21786200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:21771200-21786200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr19:21771400-21782200	Weak transcription	Fetal Intestine Large	intestine
7	chr19:21771400-21785000	Weak transcription	Fetal Intestine Small	intestine
8	chr19:21777600-21781400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:21778000-21783600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:21778200-21782000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:21778200-21785800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:21778800-21781000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
13	chr19:21779600-21780800	Strong transcription	Dnd41	blood
14	chr19:21780000-21782600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:21780600-21781800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:21780600-21782000	Weak transcription	K562	blood
17	chr19:21780600-21784400	Weak transcription	Pancreas	Pancrea

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