Variant report

Variant	rs567322758
Chromosome Location	chr17:45771015-45771016
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	HDAC2	chr17:45770966-45771376	HepG2	liver:	n/a	chr17:45771017-45771031 chr17:45771015-45771029 chr17:45771018-45771032 chr17:45771019-45771033 chr17:45771016-45771030
2	EGR1	chr17:45771005-45771460	K562	blood:	n/a	chr17:45771176-45771189 chr17:45771049-45771058 chr17:45771178-45771188
3	SIN3AK20	chr17:45770967-45771440	PANC-1	pancreas:	n/a	n/a
4	RUNX3	chr17:45770905-45771316	GM12878	blood:	n/a	n/a
5	NFIC	chr17:45770524-45771414	ECC-1	luminal epithelium:	n/a	chr17:45770725-45770742 chr17:45770725-45770741
6	ZBTB7A	chr17:45770971-45771365	K562	blood:	n/a	chr17:45771180-45771189
7	MXI1	chr17:45770824-45771315	GM12878	blood:	n/a	chr17:45771274-45771283 chr17:45771276-45771285
8	MAX	chr17:45770849-45772077	A549	lung:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45771275-45771284 chr17:45771275-45771284
9	RAD21	chr17:45770370-45771064	MCF-7	breast:	n/a	n/a
10	POLR2A	chr17:45770984-45771350	SK-N-MC	brain:	n/a	n/a
11	ZNF263	chr17:45769500-45771367	HEK293-T-REx	kidney:	n/a	chr17:45770108-45770117 chr17:45771051-45771060
12	MAX	chr17:45770985-45771186	GM12878	blood:	n/a	n/a
13	ZNF384	chr17:45770784-45771257	K562	blood:	n/a	n/a
14	ELF1	chr17:45771015-45771366	GM12878	blood:	n/a	n/a
15	FOXP2	chr17:45770925-45771345	SK-N-MC	brain:	n/a	n/a
16	SPI1	chr17:45770917-45771163	GM12878	blood:	n/a	n/a
17	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
18	ZNF384	chr17:45770815-45771230	GM12878	blood:	n/a	n/a
19	MYC	chr17:45770803-45771397	K562	blood:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45771275-45771284 chr17:45771275-45771284
20	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
21	ZBTB7A	chr17:45770940-45771400	HepG2	liver:	n/a	chr17:45771180-45771189
22	ZBTB7A	chr17:45770909-45771391	ECC-1	luminal epithelium:	n/a	chr17:45771180-45771189
23	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
24	YY1	chr17:45770990-45771352	K562	blood:	n/a	chr17:45771187-45771201 chr17:45771184-45771198 chr17:45771261-45771270
25	POLR2A	chr17:45770562-45773861	SK-N-MC	brain:	n/a	n/a
26	MAX	chr17:45770411-45772191	A549	lung:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
27	MAZ	chr17:45770702-45772067	GM12878	blood:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45771275-45771284 chr17:45771275-45771284
28	MXI1	chr17:45768997-45773036	SK-N-SH	brain:	n/a	chr17:45771274-45771283 chr17:45771276-45771285
29	SPI1	chr17:45770929-45771157	K562	blood:	n/a	n/a
30	RUNX3	chr17:45770891-45771247	GM12878	blood:	n/a	n/a
31	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
32	SPI1	chr17:45770855-45771164	GM12891	blood:	n/a	chr17:45770883-45770892
33	POLR2A	chr17:45770218-45771375	HepG2	liver:	n/a	n/a
34	MAX	chr17:45770926-45772738	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
35	SPI1	chr17:45770848-45771219	HL-60	blood:	n/a	chr17:45770883-45770892
36	MAX	chr17:45770916-45772684	HepG2	liver:	n/a	chr17:45772422-45772441 chr17:45772253-45772263 chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772436-45772452 chr17:45772427-45772436 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
37	NR2F2	chr17:45770270-45771139	MCF-7	breast:	n/a	n/a
38	CHD2	chr17:45770955-45771157	GM12878	blood:	n/a	n/a
39	ZBTB7A	chr17:45770871-45772838	ECC-1	luminal epithelium:	n/a	chr17:45771619-45771628 chr17:45772325-45772333 chr17:45771180-45771189
40	MXI1	chr17:45770859-45772085	IMR90	lung:	n/a	chr17:45771274-45771283 chr17:45771276-45771285
41	NR2F2	chr17:45770381-45771086	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
2	chr17:45770607..45771146-chr17:49025306..49026180,2	MCF-7	breast:
3	chr17:45769360..45771428-chr17:45820876..45822784,2	K562	blood:
4	chr17:45759280..45761453-chr17:45769227..45771829,2	MCF-7	breast:
5	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
6	chr17:45768574..45772572-chr17:48939145..48944059,6	MCF-7	breast:
7	chr17:45750680..45752011-chr17:45770212..45771248,37	MCF-7	breast:
8	chr17:45748954..45758231-chr17:45766475..45774270,24	MCF-7	breast:
9	chr17:45744847..45747701-chr17:45770377..45772396,2	MCF-7	breast:
10	chr17:45770024..45772308-chr17:49229388..49231446,2	MCF-7	breast:
11	chr17:45770570..45771073-chr17:49021534..49022059,2	MCF-7	breast:
12	chr17:45759177..45766275-chr17:45767435..45773662,12	K562	blood:
13	chr17:45769138..45771658-chr17:46124750..46126805,2	MCF-7	breast:
14	chr17:45750780..45752037-chr17:45770257..45771137,11	MCF-7	breast:
15	chr17:45751758..45755455-chr17:45769353..45774872,5	MCF-7	breast:
16	chr17:45769286..45774957-chr17:48935664..48947128,23	MCF-7	breast:
17	chr17:45725833..45728916-chr17:45770004..45772680,3	MCF-7	breast:
18	chr17:7854842..7855345-chr17:45770546..45771148,2	MCF-7	breast:
19	chr17:45769943..45772007-chr17:45907461..45910429,3	K562	blood:
20	chr17:45770755..45772966-chr17:48944233..48946026,2	MCF-7	breast:
21	chr17:45771011..45773166-chr17:45884072..45886713,2	MCF-7	breast:
22	chr17:45750793..45752075-chr17:45770216..45771134,22	MCF-7	breast:

Variant related genes	Relation type
TBKBP1	TF binding region
ENSG00000263412	Chromatin interaction
ENSG00000011052	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000263766	Chromatin interaction
ENSG00000239672	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000243678	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000159111	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45769800-45771200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr17:45770000-45771200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr17:45770000-45771200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:45770000-45771200	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr17:45770200-45771200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr17:45770200-45771200	Enhancers	Fetal Heart	heart
7	chr17:45770400-45771200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:45770400-45771200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr17:45770400-45771200	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr17:45770400-45771200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr17:45770400-45771200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr17:45770400-45771200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr17:45770400-45771200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr17:45770400-45771200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr17:45770400-45771400	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr17:45770400-45771400	Flanking Active TSS	Dnd41	blood
17	chr17:45770600-45771200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr17:45770600-45771200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:45770600-45771200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr17:45770600-45771200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:45770600-45771200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:45770600-45771200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:45770600-45771200	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr17:45770600-45771200	Flanking Active TSS	Colonic Mucosa	Colon
25	chr17:45770600-45771200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr17:45770600-45771200	Flanking Active TSS	Hela-S3	cervix
27	chr17:45770600-45771200	Flanking Active TSS	HUVEC	blood vessel
28	chr17:45770600-45771400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr17:45770600-45773400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr17:45770600-45773400	Active TSS	Lung	lung
31	chr17:45770800-45771200	Flanking Active TSS	Liver	Liver
32	chr17:45770800-45771200	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr17:45770800-45771200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
34	chr17:45770800-45771200	Flanking Bivalent TSS/Enh	Thymus	Thymus
35	chr17:45770800-45771200	Flanking Bivalent TSS/Enh	NHEK	skin
36	chr17:45770800-45772200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:45770800-45772200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:45770800-45772200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:45770800-45772400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr17:45770800-45772400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:45770800-45772400	Active TSS	Brain Angular Gyrus	brain
42	chr17:45770800-45772400	Active TSS	Esophagus	oesophagus
43	chr17:45770800-45772400	Active TSS	Pancreas	Pancrea
44	chr17:45770800-45772400	Active TSS	Right Ventricle	heart
45	chr17:45770800-45772400	Active TSS	NHLF	lung
46	chr17:45770800-45772800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr17:45770800-45773200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr17:45770800-45773200	Active TSS	Rectal Smooth Muscle	rectum
49	chr17:45770800-45773400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr17:45770800-45773400	Active TSS	Ovary	ovary

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