Variant report

Variant	rs575462194
Chromosome Location	chr17:19436743-19436744
allele	A/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	MAZ	chr17:19436718-19437397	HepG2	liver:	n/a	n/a
2	MXI1	chr17:19436721-19438071	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:19436626-19436780	HepG2	liver:	n/a	n/a
4	MAX	chr17:19436638-19438058	A549	lung:	n/a	n/a
5	ZBTB7A	chr17:19436701-19437171	ECC-1	luminal epithelium:	n/a	chr17:19437036-19437043
6	POLR2A	chr17:19436595-19437998	HepG2	liver:	n/a	n/a
7	HDAC2	chr17:19436626-19437287	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:19436722-19436801	MCF-7	breast:	n/a	n/a
9	RFX5	chr17:19436672-19436855	HepG2	liver:	n/a	chr17:19436692-19436700
10	HEY1	chr17:19436646-19437445	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19435840..19438479-chr17:19458086..19460035,3	MCF-7	breast:

Variant related genes	Relation type
SLC47A1	TF binding region
ENSG00000142494	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	esv3335342	chr17:19436410-19438558	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19436200-19437200	Flanking Active TSS	Liver	Liver
2	chr17:19436400-19436800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
3	chr17:19436400-19436800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:19436400-19436800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:19436400-19436800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr17:19436400-19436800	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr17:19436400-19436800	Enhancers	Ovary	ovary
8	chr17:19436400-19436800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
9	chr17:19436400-19436800	Flanking Active TSS	A549	lung
10	chr17:19436400-19437000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr17:19436400-19437000	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr17:19436400-19437200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr17:19436400-19437200	Enhancers	Spleen	Spleen
14	chr17:19436400-19437800	Bivalent/Poised TSS	NHEK	skin
15	chr17:19436400-19438000	Bivalent Enhancer	Fetal Brain Male	brain
16	chr17:19436400-19438200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr17:19436400-19438400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr17:19436400-19438400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr17:19436600-19436800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr17:19436600-19436800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:19436600-19436800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr17:19436600-19436800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr17:19436600-19436800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:19436600-19436800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:19436600-19436800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr17:19436600-19436800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
27	chr17:19436600-19436800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:19436600-19436800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr17:19436600-19436800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:19436600-19436800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:19436600-19436800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:19436600-19436800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:19436600-19436800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:19436600-19436800	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
35	chr17:19436600-19436800	Enhancers	Brain Anterior Caudate	brain
36	chr17:19436600-19436800	Bivalent Enhancer	Fetal Brain Female	brain
37	chr17:19436600-19436800	Active TSS	Fetal Heart	heart
38	chr17:19436600-19436800	Bivalent Enhancer	Fetal Stomach	stomach
39	chr17:19436600-19436800	Enhancers	Right Atrium	heart
40	chr17:19436600-19436800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr17:19436600-19436800	Bivalent Enhancer	HMEC	breast
42	chr17:19436600-19436800	Bivalent Enhancer	Osteobl	bone
43	chr17:19436600-19437000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:19436600-19437000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:19436600-19437000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
46	chr17:19436600-19437000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
47	chr17:19436600-19437000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr17:19436600-19437000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr17:19436600-19437000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:19436600-19437000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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