Variant report

Variant	rs4801959
Chromosome Location	chr19:53669273-53669274
allele	C/T
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	SETDB1	chr19:53668475-53669476	U2OS	brain:	n/a	n/a
2	SETDB1	chr19:53667859-53670059	K562	blood:	n/a	n/a
3	ZNF274	chr19:53668766-53669358	HepG2	liver:	n/a	n/a
4	ZNF274	chr19:53667870-53669777	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF274	chr19:53668347-53669370	Hela-S3	cervix:	n/a	n/a
6	KAP1	chr19:53668154-53669837	K562	blood:	n/a	n/a
7	ZNF274	chr19:53667705-53670265	K562	blood:	n/a	n/a
8	TRIM28	chr19:53668814-53669283	K562	blood:	n/a	n/a
9	ZNF274	chr19:53668791-53669564	GM12878	blood:	n/a	n/a
10	ZNF274	chr19:53667843-53669570	K562	blood:	n/a	n/a
11	ZNF274	chr19:53668262-53669619	NT2-D1	testis:	n/a	n/a
12	ZNF274	chr19:53668237-53669599	GM08714	blood:	n/a	n/a

Variant related genes	Relation type
ZNF665	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2584273	1.00[ASW][hapmap]
rs6509729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260409	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8111924	0.91[EUR][1000 genomes]
rs8112318	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
9	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv912350	chr19:53636016-53687818	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv912351	chr19:53655493-53702508	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv580077	chr19:53664448-53669492	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv2762999	chr19:53665818-53709353	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53664400-53670200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:53664800-53695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:53666600-53670400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:53666800-53669600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:53667000-53669400	ZNF genes & repeats	Primary B cells from cord blood	blood
6	chr19:53667000-53669800	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr19:53667000-53670000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:53667000-53670200	ZNF genes & repeats	Fetal Brain Female	brain
9	chr19:53667000-53670400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:53667200-53670200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr19:53667600-53669400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:53667600-53669600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:53667600-53669600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr19:53667600-53669600	ZNF genes & repeats	Ovary	ovary
15	chr19:53667600-53670000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:53667600-53670200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:53667800-53669600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr19:53667800-53669600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:53667800-53669600	ZNF genes & repeats	Fetal Lung	lung
20	chr19:53667800-53669600	ZNF genes & repeats	Left Ventricle	heart
21	chr19:53667800-53670000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:53667800-53670600	ZNF genes & repeats	Dnd41	blood
23	chr19:53668000-53669400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr19:53668000-53669400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:53668000-53669400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:53668000-53669400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:53668000-53669400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
28	chr19:53668000-53669600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr19:53668000-53669600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:53668000-53669600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr19:53668000-53669600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr19:53668000-53669600	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr19:53668000-53669800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr19:53668000-53669800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:53668000-53669800	ZNF genes & repeats	Colon Smooth Muscle	Colon
36	chr19:53668000-53670000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr19:53668000-53670000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:53668200-53669400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr19:53668200-53669400	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr19:53668200-53669400	ZNF genes & repeats	Fetal Kidney	kidney
41	chr19:53668200-53669600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr19:53668200-53669600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
43	chr19:53668200-53669600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:53668200-53669600	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr19:53668200-53669600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
46	chr19:53668200-53669600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr19:53668200-53669600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
48	chr19:53668200-53669600	ZNF genes & repeats	NHDF-Ad	bronchial
49	chr19:53668200-53669800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr19:53668200-53669800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum

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