Variant report

Variant	rs569116710
Chromosome Location	chr17:17584247-17584248
allele	C/T
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	MAX	chr17:17584171-17586520	HepG2	liver:	n/a	chr17:17584460-17584470 chr17:17584569-17584579 chr17:17584960-17584970
2	RAD21	chr17:17584222-17584959	ECC-1	luminal epithelium:	n/a	chr17:17584599-17584618
3	REST	chr17:17584150-17587378	H1-neurons	neurons:	n/a	chr17:17586117-17586130 chr17:17585274-17585287 chr17:17585661-17585674 chr17:17584557-17584570 chr17:17584457-17584470 chr17:17586267-17586277
4	CTCF	chr17:17584140-17584290	GM12873	blood:	n/a	n/a
5	CTCF	chr17:17584200-17584350	GM12864	blood:	n/a	n/a
6	TCF12	chr17:17584002-17584963	A549	lung:	n/a	n/a
7	POLR2A	chr17:17584205-17587046	H1-neurons	neurons:	n/a	n/a
8	SMC3	chr17:17584044-17587289	SK-N-SH	brain:	n/a	chr17:17586706-17586716 chr17:17584566-17584576 chr17:17584600-17584614 chr17:17586108-17586118
9	CHD1	chr17:17584053-17587549	IMR90	lung:	n/a	chr17:17585399-17585409 chr17:17584955-17584965
10	ZNF263	chr17:17583857-17585038	HEK293-T-REx	kidney:	n/a	chr17:17584983-17584992
11	CTCF	chr17:17583878-17586930	A549	lung:	n/a	chr17:17585965-17585978 chr17:17586704-17586713 chr17:17584601-17584614 chr17:17584600-17584621 chr17:17584601-17584610 chr17:17584959-17584972 chr17:17584598-17584616 chr17:17584599-17584615 chr17:17586744-17586757
12	ZBTB7A	chr17:17584227-17586957	ECC-1	luminal epithelium:	n/a	chr17:17585395-17585404 chr17:17584964-17584973 chr17:17585784-17585792
13	CTCF	chr17:17584220-17584370	GM06990	blood:	n/a	n/a
14	CTCF	chr17:17584140-17584430	RPTEC	kidney:	n/a	n/a
15	RAD21	chr17:17583951-17587076	SK-N-SH	brain:	n/a	chr17:17584599-17584618 chr17:17586614-17586627 chr17:17585966-17585979
16	MAX	chr17:17584176-17587411	A549	lung:	n/a	chr17:17584460-17584470 chr17:17584569-17584579 chr17:17584960-17584970
17	CTCF	chr17:17584160-17584310	HFF-Myc	foreskin:	n/a	n/a
18	MXI1	chr17:17584055-17587578	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr17:17584200-17584350	HEK293	kidney:	n/a	n/a
20	MAZ	chr17:17584156-17587858	IMR90	lung:	n/a	chr17:17584460-17584470 chr17:17584569-17584579 chr17:17584960-17584970
21	CTCF	chr17:17584200-17584350	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr17:17584046-17586675	SK-N-SH	brain:	n/a	chr17:17585965-17585978 chr17:17584601-17584614 chr17:17584600-17584621 chr17:17584601-17584610 chr17:17584959-17584972 chr17:17584598-17584616 chr17:17584599-17584615
23	RAD21	chr17:17584133-17584935	HCT-116	colon:	n/a	chr17:17584599-17584618
24	STAT3	chr17:17584198-17584521	MCF10A-Er-Src	breast:	n/a	chr17:17584456-17584468
25	CTCF	chr17:17584200-17584350	GM12867	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17582120..17584481-chr17:17669635..17672296,2	K562	blood:
2	chr17:17583267..17586800-chr17:17714001..17718221,4	K562	blood:
3	chr17:17584110..17584675-chr17:17763112..17763841,2	MCF-7	breast:
4	chr17:17581707..17587972-chr17:17684185..17691006,14	MCF-7	breast:
5	chr17:17584083..17584649-chr17:17715246..17716136,2	MCF-7	breast:
6	chr17:17584228..17586367-chr17:17721759..17723604,3	MCF-7	breast:
7	chr17:17583605..17586318-chr17:17753777..17755939,2	K562	blood:
8	chr17:17584192..17584734-chr17:17642875..17643692,2	MCF-7	breast:
9	chr17:17583924..17586191-chr17:17941715..17944094,3	K562	blood:
10	chr17:17583519..17585283-chr17:17719170..17722055,2	MCF-7	breast:
11	chr17:17583640..17587401-chr17:17713270..17717474,6	MCF-7	breast:
12	chr17:17582541..17589441-chr17:17738170..17742091,10	K562	blood:
13	chr17:17583171..17587600-chr17:17683205..17687633,5	MCF-7	breast:
14	chr17:17583267..17584889-chr17:17715443..17717177,2	K562	blood:
15	chr17:17580850..17587926-chr17:17737733..17744809,17	MCF-7	breast:
16	chr17:17584137..17584962-chr17:17739599..17740212,2	HCT-116	colon:
17	chr17:17582010..17584605-chr17:17704588..17707472,2	K562	blood:
18	chr17:17583537..17586679-chr17:17711908..17715201,3	MCF-7	breast:
19	chr17:17583643..17586896-chr17:17724231..17729521,8	MCF-7	breast:

Variant related genes	Relation type
SMCR2	TF binding region
RAI1	TF binding region
ENSG00000141034	Chromatin interaction
ENSG00000207839	Chromatin interaction
ENSG00000175662	Chromatin interaction
ENSG00000171953	Chromatin interaction
ENSG00000072310	Chromatin interaction
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
8	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
11	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	nsv543239	chr17:17580295-17599851	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv907755	chr17:17581184-17610587	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv3369275	chr17:17583127-17586825	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	esv3443065	chr17:17583652-17586200	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv827910	chr17:17583901-17586576	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv3413919	chr17:17583902-17586600	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17580600-17584400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr17:17580600-17585200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:17580800-17584600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:17581000-17584800	Weak transcription	Primary T cells from cord blood	blood
5	chr17:17581000-17586400	Weak transcription	Fetal Heart	heart
6	chr17:17581400-17584800	Weak transcription	HUVEC	blood vessel
7	chr17:17582000-17584400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:17582000-17584600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:17583600-17586800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr17:17583800-17584600	Enhancers	Fetal Thymus	thymus
11	chr17:17584000-17584400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:17584000-17584400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr17:17584000-17584400	Enhancers	Primary hematopoietic stem cells	blood
14	chr17:17584000-17584400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr17:17584000-17584400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:17584000-17584400	Enhancers	Liver	Liver
17	chr17:17584000-17584400	Active TSS	Fetal Kidney	kidney
18	chr17:17584000-17584600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:17584000-17584600	Enhancers	Primary B cells from peripheral blood	blood
20	chr17:17584000-17584600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr17:17584000-17584600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:17584000-17584600	Enhancers	Fetal Intestine Small	intestine
23	chr17:17584000-17584600	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr17:17584000-17586000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:17584000-17586600	Active TSS	Hela-S3	cervix
26	chr17:17584200-17584400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:17584200-17584400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr17:17584200-17584400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr17:17584200-17584400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:17584200-17584400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:17584200-17584400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr17:17584200-17584400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr17:17584200-17584400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr17:17584200-17584400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr17:17584200-17584400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr17:17584200-17584400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr17:17584200-17584400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr17:17584200-17584400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr17:17584200-17584400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr17:17584200-17584400	Enhancers	Adipose Nuclei	Adipose
41	chr17:17584200-17584400	Enhancers	Aorta	Aorta
42	chr17:17584200-17584400	Enhancers	Brain Cingulate Gyrus	brain
43	chr17:17584200-17584400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr17:17584200-17584400	Enhancers	Colon Smooth Muscle	Colon
45	chr17:17584200-17584400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr17:17584200-17584400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr17:17584200-17584400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr17:17584200-17584400	Flanking Active TSS	Fetal Brain Female	brain
49	chr17:17584200-17584400	Enhancers	Lung	lung
50	chr17:17584200-17584400	Enhancers	Right Atrium	heart

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