Variant report

Variant	rs147363351
Chromosome Location	chr17:45330408-45330409
allele	A/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	CTCF	chr17:45330260-45330410	HepG2	liver:	n/a	n/a
2	CTCF	chr17:45330320-45330470	GM12873	blood:	n/a	n/a
3	CTCF	chr17:45330260-45330410	GM12872	blood:	n/a	n/a
4	CTCF	chr17:45330320-45330470	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr17:45330320-45330470	RPTEC	kidney:	n/a	n/a
6	CTCF	chr17:45330300-45330450	K562	blood:	n/a	n/a
7	GATA3	chr17:45330259-45330535	T-47D	breast:	n/a	chr17:45330447-45330464 chr17:45330456-45330466 chr17:45330456-45330465 chr17:45330458-45330465
8	GATA2	chr17:45329896-45330980	SH-SY5Y	brain:	n/a	chr17:45330447-45330464 chr17:45330456-45330466 chr17:45330456-45330465 chr17:45330458-45330465
9	CTCF	chr17:45329967-45331680	A549	lung:	n/a	n/a
10	ELF1	chr17:45330192-45330509	K562	blood:	n/a	chr17:45330349-45330362

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45326928..45330471-chr17:45335403..45338279,3	K562	blood:
2	chr17:45297983..45300898-chr17:45329772..45332242,2	K562	blood:

Variant related genes	Relation type
ENSG00000259753	TF binding region
ITGB3	TF binding region
ENSG00000252088	Chromatin interaction
ENSG00000238419	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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3370617	chr17:45329978-45332826	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45318600-45330600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45318600-45331200	Weak transcription	HSMMtube	muscle
3	chr17:45323000-45330600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:45326800-45330800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:45328600-45330600	Enhancers	Fetal Intestine Small	intestine
6	chr17:45328600-45330600	Enhancers	K562	blood
7	chr17:45328600-45330800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr17:45328800-45332200	Enhancers	Fetal Heart	heart
9	chr17:45329000-45330800	Enhancers	Fetal Intestine Large	intestine
10	chr17:45329400-45330600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:45329400-45330800	Enhancers	Placenta	Placenta
12	chr17:45329400-45331200	Enhancers	Liver	Liver
13	chr17:45329600-45330600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr17:45329600-45330600	Enhancers	NHDF-Ad	bronchial
15	chr17:45329600-45330800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:45329600-45330800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:45329600-45330800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:45329600-45330800	Enhancers	Aorta	Aorta
19	chr17:45329600-45330800	Enhancers	Right Ventricle	heart
20	chr17:45329800-45330600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:45329800-45330800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr17:45329800-45330800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr17:45329800-45330800	Enhancers	Duodenum Mucosa	Duodenum
24	chr17:45329800-45330800	Weak transcription	Ovary	ovary
25	chr17:45329800-45330800	Weak transcription	Right Atrium	heart
26	chr17:45329800-45330800	Enhancers	Hela-S3	cervix
27	chr17:45330200-45330800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:45330200-45330800	Weak transcription	Left Ventricle	heart
29	chr17:45330400-45330600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:45330400-45330600	Enhancers	Adipose Nuclei	Adipose
31	chr17:45330400-45330600	Bivalent Enhancer	Dnd41	blood
32	chr17:45330400-45330800	Enhancers	Primary B cells from peripheral blood	blood
33	chr17:45330400-45330800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:45330400-45330800	Active TSS	Fetal Muscle Trunk	muscle
35	chr17:45330400-45330800	Bivalent Enhancer	Fetal Stomach	stomach
36	chr17:45330400-45330800	Enhancers	HepG2	liver

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