Variant report

Variant	rs575704298
Chromosome Location	chr19:56987744-56987745
allele	C/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	MAZ	chr19:56987654-56990331	IMR90	lung:	n/a	chr19:56988596-56988605 chr19:56988800-56988809 chr19:56989847-56989857 chr19:56988525-56988534 chr19:56988774-56988783
2	MXI1	chr19:56987494-56990858	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ZNF667-AS1	TF binding region
ZNF667	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv580385	chr19:56918598-57072433	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv580386	chr19:56924761-57072433	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv3358424	chr19:56987565-56990113	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56981000-56988000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr19:56983000-56988000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:56983200-56987800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:56984000-56988000	Weak transcription	Left Ventricle	heart
5	chr19:56984600-56988000	Weak transcription	Psoas Muscle	Psoas
6	chr19:56984800-56987800	Weak transcription	Fetal Kidney	kidney
7	chr19:56984800-56988000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:56985400-56990400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:56985400-56991400	ZNF genes & repeats	Liver	Liver
10	chr19:56986000-56988000	Weak transcription	Right Atrium	heart
11	chr19:56986800-56988000	Enhancers	Right Ventricle	heart
12	chr19:56987000-56987800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:56987000-56990000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:56987000-56990400	ZNF genes & repeats	Gastric	stomach
15	chr19:56987200-56988000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr19:56987400-56987800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr19:56987400-56987800	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr19:56987400-56987800	Enhancers	Fetal Muscle Trunk	muscle
19	chr19:56987400-56987800	Enhancers	Fetal Stomach	stomach
20	chr19:56987400-56988000	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr19:56987400-56988000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr19:56987400-56988000	ZNF genes & repeats	Fetal Thymus	thymus
23	chr19:56987400-56988200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr19:56987400-56988400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:56987400-56988400	Flanking Active TSS	Dnd41	blood
26	chr19:56987400-56988600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr19:56987400-56988600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:56987400-56990000	ZNF genes & repeats	Placenta	Placenta
29	chr19:56987400-56990800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr19:56987400-56992400	ZNF genes & repeats	Lung	lung
31	chr19:56987600-56987800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:56987600-56987800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:56987600-56987800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr19:56987600-56987800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:56987600-56987800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:56987600-56987800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:56987600-56987800	Enhancers	Primary hematopoietic stem cells	blood
38	chr19:56987600-56987800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr19:56987600-56987800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:56987600-56987800	Active TSS	Brain Substantia Nigra	brain
41	chr19:56987600-56987800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr19:56987600-56987800	Enhancers	Fetal Heart	heart
43	chr19:56987600-56987800	Enhancers	Ovary	ovary
44	chr19:56987600-56987800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr19:56987600-56987800	Enhancers	Stomach Smooth Muscle	stomach
46	chr19:56987600-56987800	Active TSS	HSMM	muscle
47	chr19:56987600-56988000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr19:56987600-56988000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:56987600-56988000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:56987600-56988000	Enhancers	Primary B cells from peripheral blood	blood

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