Variant report

Variant	rs552117649
Chromosome Location	chr17:45772605-45772606
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	POLR2A	chr17:45772089-45773361	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr17:45771032-45773160	K562	blood:	n/a	n/a
3	SPI1	chr17:45772456-45773302	HL-60	blood:	n/a	chr17:45772654-45772667
4	POLR2A	chr17:45771031-45773121	NB4	blood:	n/a	n/a
5	POLR2A	chr17:45772375-45772669	MCF-7	breast:	n/a	n/a
6	POLR2A	chr17:45772104-45773184	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr17:45772346-45773244	HUVEC	blood vessel:	n/a	n/a
8	USF1	chr17:45772276-45772627	GM12878	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
9	POLR2A	chr17:45772099-45773229	HL-60	blood:	n/a	n/a
10	BACH1	chr17:45772402-45772927	H1-hESC	embryonic stem cell:	n/a	chr17:45772677-45772691
11	MTA3	chr17:45772188-45772903	GM12878	blood:	n/a	n/a
12	EBF1	chr17:45772290-45772824	GM12878	blood:	n/a	n/a
13	EGR1	chr17:45772321-45772787	K562	blood:	n/a	chr17:45772457-45772470 chr17:45772471-45772480
14	USF1	chr17:45772085-45772782	SK-N-SH	brain:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
15	CTBP2	chr17:45771527-45773901	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr17:45772136-45772690	GM12878	blood:	n/a	n/a
17	MYC	chr17:45772276-45772916	K562	blood:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772436-45772452 chr17:45772427-45772436
18	USF1	chr17:45772082-45772701	SK-N-SH_RA	brain:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
19	HMGN3	chr17:45772266-45773088	K562	blood:	n/a	n/a
20	ZBTB7A	chr17:45772269-45773168	ECC-1	luminal epithelium:	n/a	chr17:45772325-45772333
21	EGR1	chr17:45772315-45773031	K562	blood:	n/a	chr17:45772457-45772470 chr17:45772924-45772933 chr17:45772471-45772480
22	BHLHE40	chr17:45771791-45772796	GM12878	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
23	POLR2A	chr17:45772124-45773191	SK-N-MC	brain:	n/a	n/a
24	MAZ	chr17:45772343-45772818	GM12878	blood:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772436-45772452 chr17:45772427-45772436
25	E2F6	chr17:45772259-45772682	K562	blood:	n/a	n/a
26	USF1	chr17:45772131-45772792	ECC-1	luminal epithelium:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
27	USF1	chr17:45772185-45772709	ECC-1	luminal epithelium:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
28	MAX	chr17:45772359-45772628	K562	blood:	n/a	chr17:45772422-45772441 chr17:45772436-45772452 chr17:45772427-45772436
29	FOXP2	chr17:45772276-45772607	PFSK-1	brain:	n/a	n/a
30	USF1	chr17:45772228-45772632	K562	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
31	FOS	chr17:45772444-45773068	HUVEC	blood vessel:	n/a	chr17:45772680-45772688 chr17:45772676-45772687 chr17:45772680-45772688 chr17:45772681-45772688
32	MAX	chr17:45770419-45773221	NB4	blood:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772436-45772452 chr17:45772427-45772436 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
33	MAZ	chr17:45771109-45773117	K562	blood:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772436-45772452 chr17:45772427-45772436 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
34	HEY1	chr17:45772389-45772622	K562	blood:	n/a	n/a
35	MYC	chr17:45772305-45772645	MCF-7	breast:	n/a	chr17:45772422-45772441 chr17:45772436-45772452 chr17:45772427-45772436
36	NRF1	chr17:45772148-45772811	SK-N-SH	brain:	n/a	n/a
37	MYC	chr17:45770475-45773196	NB4	blood:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772436-45772452 chr17:45772427-45772436 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
38	MAZ	chr17:45770401-45773103	IMR90	lung:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772436-45772452 chr17:45772427-45772436 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
39	POLR2A	chr17:45772181-45772673	MCF-7	breast:	n/a	n/a
40	BHLHE40	chr17:45772247-45773034	K562	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
41	BHLHE40	chr17:45772262-45772643	HepG2	liver:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
42	POLR2A	chr17:45772253-45772640	GM12878	blood:	n/a	n/a
43	ELF1	chr17:45772207-45773095	GM12878	blood:	n/a	chr17:45772250-45772262 chr17:45772891-45772904
44	POLR2A	chr17:45770562-45773861	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr17:45772247-45772631	ECC-1	luminal epithelium:	n/a	n/a
46	EGR1	chr17:45772251-45772633	ECC-1	luminal epithelium:	n/a	chr17:45772457-45772470 chr17:45772255-45772268 chr17:45772471-45772480 chr17:45772252-45772262
47	MYC	chr17:45772092-45772778	HUVEC	blood vessel:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45772436-45772452 chr17:45772427-45772436
48	MAX	chr17:45772081-45772814	SK-N-SH	brain:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45772436-45772452 chr17:45772427-45772436
49	MXI1	chr17:45768997-45773036	SK-N-SH	brain:	n/a	chr17:45771274-45771283 chr17:45771276-45771285
50	USF2	chr17:45772262-45772628	GM12878	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437

No.	Distal block	Cell Line	Cell type
1	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
2	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
3	chr17:45748954..45758231-chr17:45766475..45774270,24	MCF-7	breast:
4	chr17:45759177..45766275-chr17:45767435..45773662,12	K562	blood:
5	chr17:45751758..45755455-chr17:45769353..45774872,5	MCF-7	breast:
6	chr17:45769286..45774957-chr17:48935664..48947128,23	MCF-7	breast:
7	chr17:45725833..45728916-chr17:45770004..45772680,3	MCF-7	breast:
8	chr17:45770755..45772966-chr17:48944233..48946026,2	MCF-7	breast:
9	chr17:45771011..45773166-chr17:45884072..45886713,2	MCF-7	breast:

Variant related genes	Relation type
TBKBP1	TF binding region
ENSG00000141232	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000263766	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3407918	chr17:45770178-45772726	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3342398	chr17:45770478-45773326	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3403096	chr17:45770503-45773351	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	nsv9570	chr17:45770873-45779791	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45770600-45773400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr17:45770600-45773400	Active TSS	Lung	lung
3	chr17:45770800-45772800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr17:45770800-45773200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:45770800-45773200	Active TSS	Rectal Smooth Muscle	rectum
6	chr17:45770800-45773400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr17:45770800-45773400	Active TSS	Ovary	ovary
8	chr17:45770800-45773600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr17:45770800-45773600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:45770800-45774000	Active TSS	Right Atrium	heart
11	chr17:45770800-45774400	Active TSS	Left Ventricle	heart
12	chr17:45771000-45772800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:45771000-45773000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr17:45771000-45773200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:45771000-45773200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr17:45771000-45773200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr17:45771000-45773200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr17:45771000-45773400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:45771000-45773400	Active TSS	Colon Smooth Muscle	Colon
20	chr17:45771000-45773400	Active TSS	Psoas Muscle	Psoas
21	chr17:45771000-45773600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr17:45771000-45773800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr17:45771800-45773000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr17:45771800-45773200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
25	chr17:45772000-45773600	Active TSS	Fetal Kidney	kidney
26	chr17:45772200-45772800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:45772200-45772800	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr17:45772200-45772800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr17:45772200-45772800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr17:45772200-45772800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
31	chr17:45772200-45772800	Flanking Bivalent TSS/Enh	Dnd41	blood
32	chr17:45772200-45772800	Flanking Active TSS	NH-A	brain
33	chr17:45772200-45773000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr17:45772200-45773000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:45772200-45773000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr17:45772200-45773000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr17:45772200-45773000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr17:45772200-45773000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:45772200-45773000	Flanking Bivalent TSS/Enh	Placenta	Placenta
40	chr17:45772200-45773000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr17:45772200-45773000	Flanking Active TSS	HepG2	liver
42	chr17:45772200-45773000	Flanking Active TSS	HMEC	breast
43	chr17:45772200-45773000	Flanking Active TSS	NHEK	skin
44	chr17:45772200-45773200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:45772200-45773200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr17:45772200-45773200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:45772200-45773200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr17:45772200-45773400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:45772200-45773400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:45772200-45773400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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