Variant report

Variant	rs34394910
Chromosome Location	chr17:45330698-45330699
allele	-/C
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	chr17:45330600-45330750	HCPEpiC	choroid plexus:	n/a	n/a
2	RCOR1	chr17:45330545-45330701	K562	blood:	n/a	n/a
3	MAZ	chr17:45330511-45332011	IMR90	lung:	n/a	n/a
4	CEBPB	chr17:45330559-45330759	HepG2	liver:	n/a	n/a
5	BRCA1	chr17:45330656-45330710	Hela-S3	cervix:	n/a	n/a
6	JUN	chr17:45330487-45331821	K562	blood:	n/a	n/a
7	CTCF	chr17:45330497-45332433	SK-N-SH	brain:	n/a	chr17:45331927-45331936 chr17:45331921-45331939
8	MXI1	chr17:45330643-45332297	IMR90	lung:	n/a	n/a
9	CEBPB	chr17:45330569-45330810	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZBTB7A	chr17:45330596-45331856	ECC-1	luminal epithelium:	n/a	chr17:45331586-45331597
11	MAX	chr17:45330697-45332048	A549	lung:	n/a	n/a
12	CEBPB	chr17:45330490-45330782	K562	blood:	n/a	n/a
13	GATA2	chr17:45329896-45330980	SH-SY5Y	brain:	n/a	chr17:45330447-45330464 chr17:45330456-45330466 chr17:45330456-45330465 chr17:45330458-45330465
14	CEBPB	chr17:45330487-45330750	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr17:45329967-45331680	A549	lung:	n/a	n/a
16	ZBTB7A	chr17:45330669-45331437	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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

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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45318600-45331200	Weak transcription	HSMMtube	muscle
2	chr17:45326800-45330800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:45328600-45330800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr17:45328800-45332200	Enhancers	Fetal Heart	heart
5	chr17:45329000-45330800	Enhancers	Fetal Intestine Large	intestine
6	chr17:45329400-45330800	Enhancers	Placenta	Placenta
7	chr17:45329400-45331200	Enhancers	Liver	Liver
8	chr17:45329600-45330800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:45329600-45330800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:45329600-45330800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:45329600-45330800	Enhancers	Aorta	Aorta
12	chr17:45329600-45330800	Enhancers	Right Ventricle	heart
13	chr17:45329800-45330800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr17:45329800-45330800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr17:45329800-45330800	Enhancers	Duodenum Mucosa	Duodenum
16	chr17:45329800-45330800	Weak transcription	Ovary	ovary
17	chr17:45329800-45330800	Weak transcription	Right Atrium	heart
18	chr17:45329800-45330800	Enhancers	Hela-S3	cervix
19	chr17:45330200-45330800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:45330200-45330800	Weak transcription	Left Ventricle	heart
21	chr17:45330400-45330800	Enhancers	Primary B cells from peripheral blood	blood
22	chr17:45330400-45330800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:45330400-45330800	Active TSS	Fetal Muscle Trunk	muscle
24	chr17:45330400-45330800	Bivalent Enhancer	Fetal Stomach	stomach
25	chr17:45330400-45330800	Enhancers	HepG2	liver
26	chr17:45330600-45330800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:45330600-45330800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:45330600-45330800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
29	chr17:45330600-45330800	Enhancers	Primary hematopoietic stem cells	blood
30	chr17:45330600-45330800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
31	chr17:45330600-45330800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr17:45330600-45330800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:45330600-45330800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr17:45330600-45330800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:45330600-45330800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr17:45330600-45330800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr17:45330600-45330800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr17:45330600-45330800	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr17:45330600-45330800	Enhancers	GM12878-XiMat	blood
40	chr17:45330600-45330800	Enhancers	HUVEC	blood vessel
41	chr17:45330600-45330800	Enhancers	NH-A	brain
42	chr17:45330600-45330800	Weak transcription	NHDF-Ad	bronchial
43	chr17:45330600-45331000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:45330600-45331000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr17:45330600-45331000	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr17:45330600-45331000	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr17:45330600-45331000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
48	chr17:45330600-45331000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr17:45330600-45331000	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr17:45330600-45331000	Flanking Active TSS	K562	blood

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