Variant report

Variant	rs149555730
Chromosome Location	chr17:45771774-45771775
allele	A/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	SP1	chr17:45771413-45772072	H1-hESC	embryonic stem cell:	n/a	chr17:45771473-45771487 chr17:45771853-45771862 chr17:45771476-45771488 chr17:45771820-45771829 chr17:45771819-45771831 chr17:45771476-45771488 chr17:45771583-45771597 chr17:45771587-45771596 chr17:45771854-45771863 chr17:45771477-45771486 chr17:45771849-45771863 chr17:45771819-45771831 chr17:45771852-45771864 chr17:45771477-45771487 chr17:45771910-45771917 chr17:45771816-45771830 chr17:45771852-45771864
2	TEAD4	chr17:45771774-45772168	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr17:45771761-45771936	HepG2	liver:	n/a	n/a
4	CHD2	chr17:45771673-45771837	K562	blood:	n/a	n/a
5	POLR2A	chr17:45771032-45773160	K562	blood:	n/a	n/a
6	POLR2A	chr17:45771175-45772040	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr17:45771030-45772229	K562	blood:	n/a	chr17:45771619-45771628 chr17:45771180-45771189
8	POLR2A	chr17:45771031-45773121	NB4	blood:	n/a	n/a
9	SIN3AK20	chr17:45771715-45771977	PFSK-1	brain:	n/a	n/a
10	SIN3AK20	chr17:45771764-45772048	PFSK-1	brain:	n/a	n/a
11	YY1	chr17:45771631-45772025	SK-N-SH_RA	brain:	n/a	chr17:45771727-45771736
12	HMGN3	chr17:45771605-45771795	K562	blood:	n/a	n/a
13	CTBP2	chr17:45771527-45773901	H1-hESC	embryonic stem cell:	n/a	n/a
14	HDAC2	chr17:45771425-45772083	HepG2	liver:	n/a	n/a
15	MYC	chr17:45771743-45771909	K562	blood:	n/a	n/a
16	REST	chr17:45771333-45772395	H1-neurons	neurons:	n/a	chr17:45771977-45771990 chr17:45772364-45772382 chr17:45772366-45772379 chr17:45771974-45771994 chr17:45771982-45771992 chr17:45772348-45772358 chr17:45772042-45772051
17	MAX	chr17:45770849-45772077	A549	lung:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45771275-45771284 chr17:45771275-45771284
18	ZBTB7A	chr17:45771469-45772206	K562	blood:	n/a	chr17:45771619-45771628
19	ZBTB7A	chr17:45771711-45772066	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr17:45771557-45772044	PANC-1	pancreas:	n/a	n/a
21	ZBTB7A	chr17:45771392-45772267	ECC-1	luminal epithelium:	n/a	chr17:45771619-45771628
22	POLR2A	chr17:45771658-45772059	SK-N-SH	brain:	n/a	n/a
23	MAX	chr17:45771039-45772116	H1-hESC	embryonic stem cell:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
24	YY1	chr17:45771586-45772070	H1-hESC	embryonic stem cell:	n/a	chr17:45771727-45771736 chr17:45771587-45771598
25	FOXP2	chr17:45771394-45772034	PFSK-1	brain:	n/a	n/a
26	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
27	SIN3AK20	chr17:45771569-45772063	SK-N-SH	brain:	n/a	n/a
28	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
29	POLR2A	chr17:45771161-45772287	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr17:45771403-45772031	MCF-7	breast:	n/a	n/a
31	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
32	HEY1	chr17:45771599-45772051	HepG2	liver:	n/a	chr17:45771645-45771660
33	ZNF143	chr17:45771185-45771923	H1-hESC	embryonic stem cell:	n/a	chr17:45771598-45771608
34	POLR2A	chr17:45771055-45772383	H1-neurons	neurons:	n/a	n/a
35	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
36	CHD2	chr17:45771565-45771885	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr17:45770562-45773861	SK-N-MC	brain:	n/a	n/a
38	MAX	chr17:45770411-45772191	A549	lung:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
39	ELF1	chr17:45771432-45771893	K562	blood:	n/a	chr17:45771435-45771444 chr17:45771598-45771610 chr17:45771438-45771447
40	CHD2	chr17:45771610-45771958	HepG2	liver:	n/a	n/a
41	MAZ	chr17:45770702-45772067	GM12878	blood:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45771275-45771284 chr17:45771275-45771284
42	CCNT2	chr17:45771717-45771887	K562	blood:	n/a	chr17:45771773-45771782 chr17:45771853-45771862 chr17:45771820-45771829
43	MXI1	chr17:45768997-45773036	SK-N-SH	brain:	n/a	chr17:45771274-45771283 chr17:45771276-45771285
44	POLR2A	chr17:45771499-45772059	PFSK-1	brain:	n/a	n/a
45	SIN3A	chr17:45770265-45773476	H1-hESC	embryonic stem cell:	n/a	chr17:45771975-45771986 chr17:45771727-45771738 chr17:45771457-45771468 chr17:45771983-45771992 chr17:45773417-45773427 chr17:45773263-45773274 chr17:45771554-45771562 chr17:45773413-45773426
46	MYC	chr17:45771757-45771970	HepG2	liver:	n/a	n/a
47	YY1	chr17:45771655-45772048	H1-hESC	embryonic stem cell:	n/a	chr17:45771727-45771736
48	POLR2A	chr17:45771069-45773303	HL-60	blood:	n/a	n/a
49	MXI1	chr17:45771760-45771956	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr17:45771512-45771863	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
2	chr17:45759280..45761453-chr17:45769227..45771829,2	MCF-7	breast:
3	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
4	chr17:45768574..45772572-chr17:48939145..48944059,6	MCF-7	breast:
5	chr17:45748954..45758231-chr17:45766475..45774270,24	MCF-7	breast:
6	chr17:45744847..45747701-chr17:45770377..45772396,2	MCF-7	breast:
7	chr17:45770024..45772308-chr17:49229388..49231446,2	MCF-7	breast:
8	chr17:45759177..45766275-chr17:45767435..45773662,12	K562	blood:
9	chr17:45751758..45755455-chr17:45769353..45774872,5	MCF-7	breast:
10	chr17:45769286..45774957-chr17:48935664..48947128,23	MCF-7	breast:
11	chr17:45725833..45728916-chr17:45770004..45772680,3	MCF-7	breast:
12	chr17:45769943..45772007-chr17:45907461..45910429,3	K562	blood:
13	chr17:45770755..45772966-chr17:48944233..48946026,2	MCF-7	breast:
14	chr17:45771011..45773166-chr17:45884072..45886713,2	MCF-7	breast:

Variant related genes	Relation type
TBKBP1	TF binding region
ENSG00000263766	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000239672	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000011052	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000243678	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:126 , 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	chr17:45770800-45772200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:45770800-45772200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:45770800-45772200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:45770800-45772400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr17:45770800-45772400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:45770800-45772400	Active TSS	Brain Angular Gyrus	brain
9	chr17:45770800-45772400	Active TSS	Esophagus	oesophagus
10	chr17:45770800-45772400	Active TSS	Pancreas	Pancrea
11	chr17:45770800-45772400	Active TSS	Right Ventricle	heart
12	chr17:45770800-45772400	Active TSS	NHLF	lung
13	chr17:45770800-45772800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr17:45770800-45773200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:45770800-45773200	Active TSS	Rectal Smooth Muscle	rectum
16	chr17:45770800-45773400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr17:45770800-45773400	Active TSS	Ovary	ovary
18	chr17:45770800-45773600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr17:45770800-45773600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:45770800-45774000	Active TSS	Right Atrium	heart
21	chr17:45770800-45774400	Active TSS	Left Ventricle	heart
22	chr17:45771000-45771800	Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr17:45771000-45772000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:45771000-45772200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:45771000-45772200	Active TSS	Primary T cells fromperipheralblood	blood
26	chr17:45771000-45772200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr17:45771000-45772200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr17:45771000-45772200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:45771000-45772200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:45771000-45772200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:45771000-45772200	Active TSS	Duodenum Mucosa	Duodenum
32	chr17:45771000-45772200	Active TSS	Fetal Intestine Small	intestine
33	chr17:45771000-45772200	Active TSS	Fetal Muscle Leg	muscle
34	chr17:45771000-45772200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr17:45771000-45772200	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr17:45771000-45772200	Active TSS	A549	lung
37	chr17:45771000-45772200	Active TSS	HepG2	liver
38	chr17:45771000-45772200	Active TSS	NH-A	brain
39	chr17:45771000-45772400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:45771000-45772400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:45771000-45772400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:45771000-45772400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:45771000-45772400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:45771000-45772400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr17:45771000-45772400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:45771000-45772400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr17:45771000-45772400	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr17:45771000-45772400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr17:45771000-45772400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:45771000-45772400	Active TSS	Aorta	Aorta

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