Variant report

Variant	rs147679598
Chromosome Location	chr19:56914546-56914547
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	NRF1	chr19:56914508-56916045	SK-N-SH	brain:	n/a	chr19:56915448-56915457 chr19:56915385-56915396 chr19:56915446-56915457 chr19:56915446-56915460 chr19:56915446-56915457 chr19:56915443-56915457 chr19:56915382-56915396
2	MXI1	chr19:56914376-56916686	SK-N-SH	brain:	n/a	chr19:56916261-56916270

No.	Distal block	Cell Line	Cell type
1	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:
2	chr19:56824960..56826803-chr19:56913604..56915630,2	K562	blood:
3	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF582-1	chr19:56914145-56915302	NONHSAT068149

Variant related genes	Relation type
ZNF583	TF binding region
ENSG00000018869	Chromatin interaction
ENSG00000267454	Chromatin interaction
ENSG00000267549	Chromatin interaction
ENSG00000131848	Chromatin interaction
ENSG00000266631	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv544096	chr19:56905651-56933455	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3373403	chr19:56913940-56918638	Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56905600-56914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:56908000-56914800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:56908200-56914600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:56910400-56914600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr19:56910800-56914600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:56911000-56914600	Weak transcription	Ovary	ovary
7	chr19:56911000-56914600	Weak transcription	Right Ventricle	heart
8	chr19:56911000-56914800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:56911000-56915000	Weak transcription	Aorta	Aorta
10	chr19:56912200-56914600	Weak transcription	Left Ventricle	heart
11	chr19:56913600-56914600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:56913600-56914600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:56914000-56914600	Enhancers	Primary B cells from cord blood	blood
14	chr19:56914000-56914600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:56914000-56914600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr19:56914000-56914800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr19:56914200-56914600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:56914200-56914600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:56914200-56914600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr19:56914200-56914600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr19:56914200-56914600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:56914200-56914600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:56914200-56914600	Enhancers	Brain Angular Gyrus	brain
24	chr19:56914200-56914600	Enhancers	Fetal Muscle Leg	muscle
25	chr19:56914200-56914600	Enhancers	Fetal Stomach	stomach
26	chr19:56914200-56914600	Enhancers	Thymus	Thymus
27	chr19:56914200-56915000	Flanking Active TSS	Dnd41	blood
28	chr19:56914200-56915200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:56914200-56915200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:56914200-56916000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:56914200-56916000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr19:56914200-56916000	Active TSS	HSMMtube	muscle
33	chr19:56914200-56916000	Active TSS	NHDF-Ad	bronchial
34	chr19:56914200-56916200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr19:56914400-56914600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
36	chr19:56914400-56914600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:56914400-56914600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:56914400-56914600	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr19:56914400-56914600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr19:56914400-56914600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr19:56914400-56914600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:56914400-56914600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:56914400-56914600	Enhancers	Adipose Nuclei	Adipose
44	chr19:56914400-56914600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:56914400-56914600	Enhancers	Brain Substantia Nigra	brain
46	chr19:56914400-56914600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr19:56914400-56914600	Enhancers	Fetal Brain Male	brain
48	chr19:56914400-56914600	Enhancers	Fetal Heart	heart
49	chr19:56914400-56914600	Enhancers	Fetal Kidney	kidney
50	chr19:56914400-56914600	Enhancers	Fetal Muscle Trunk	muscle

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