Variant report

Variant	rs547773648
Chromosome Location	chr17:37773787-37773788
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	TCF12	chr17:37773658-37774436	ECC-1	luminal epithelium:	n/a	n/a
2	RCOR1	chr17:37773747-37773798	GM12878	blood:	n/a	n/a
3	RCOR1	chr17:37773592-37773928	K562	blood:	n/a	n/a
4	MXI1	chr17:37773375-37775120	SK-N-SH	brain:	n/a	n/a
5	MAZ	chr17:37773548-37775040	IMR90	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
6	HA-E2F1	chr17:37773607-37774320	MCF-7	breast:	n/a	chr17:37774198-37774207 chr17:37774140-37774154
7	MAX	chr17:37773752-37774609	ECC-1	luminal epithelium:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
8	ZNF263	chr17:37773455-37774145	HEK293-T-REx	kidney:	n/a	n/a
9	MYC	chr17:37773715-37775034	NB4	blood:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
10	MAX	chr17:37773466-37775262	A549	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
11	MAX	chr17:37773534-37774498	K562	blood:	n/a	chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
12	EP300	chr17:37773695-37774490	ECC-1	luminal epithelium:	n/a	chr17:37774176-37774192
13	MXI1	chr17:37773761-37775068	IMR90	lung:	n/a	n/a
14	ZNF143	chr17:37773533-37774295	GM12878	blood:	n/a	n/a
15	BHLHE40	chr17:37773696-37774351	GM12878	blood:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
16	MAX	chr17:37773764-37775308	ECC-1	luminal epithelium:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
17	MAX	chr17:37773581-37774963	NB4	blood:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
18	GTF3C2	chr17:37773512-37774059	K562	blood:	n/a	n/a
19	E2F6	chr17:37773781-37774385	H1-hESC	embryonic stem cell:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774140-37774154
20	NFIC	chr17:37773664-37774678	SK-N-SH	brain:	n/a	n/a
21	NFIC	chr17:37773511-37775157	ECC-1	luminal epithelium:	n/a	n/a
22	MYC	chr17:37773778-37775142	A549	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
23	ZNF143	chr17:37773511-37773927	K562	blood:	n/a	n/a
24	MAX	chr17:37773580-37775345	HCT-116	colon:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
25	MAZ	chr17:37773671-37773864	HepG2	liver:	n/a	n/a
26	EGR1	chr17:37773774-37774184	ECC-1	luminal epithelium:	n/a	chr17:37774167-37774177 chr17:37774143-37774153
27	MAX	chr17:37773633-37774581	H1-hESC	embryonic stem cell:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
28	MAX	chr17:37773322-37775248	HCT-116	colon:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
29	GTF3C2	chr17:37773542-37773885	Hela-S3	cervix:	n/a	n/a
30	MAX	chr17:37773491-37774581	HepG2	liver:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
31	RCOR1	chr17:37773699-37773828	K562	blood:	n/a	n/a
32	TCF12	chr17:37773205-37773964	A549	lung:	n/a	n/a
33	NFIC	chr17:37773546-37775082	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr17:37773781-37775096	Hela-S3	cervix:	n/a	n/a
35	ZBTB7A	chr17:37773735-37774628	ECC-1	luminal epithelium:	n/a	n/a
36	ZNF143	chr17:37773668-37773994	H1-hESC	embryonic stem cell:	n/a	n/a
37	NFIC	chr17:37773606-37774580	SK-N-SH	brain:	n/a	n/a
38	EGR1	chr17:37773748-37774195	K562	blood:	n/a	chr17:37774167-37774177 chr17:37774143-37774153
39	MAZ	chr17:37773704-37775020	Hela-S3	cervix:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
40	NR3C1	chr17:37773569-37774471	A549	lung:	n/a	n/a
41	ELF1	chr17:37773464-37774376	GM12878	blood:	n/a	n/a
42	MYC	chr17:37773495-37775042	MCF10A-Er-Src	breast:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
43	MAX	chr17:37773369-37775395	A549	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
44	MAX	chr17:37773671-37775161	Hela-S3	cervix:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
45	RCOR1	chr17:37773604-37774791	Hela-S3	cervix:	n/a	n/a
46	BHLHE40	chr17:37773499-37774374	HepG2	liver:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
47	E2F1	chr17:37773699-37774634	Hela-S3	cervix:	n/a	chr17:37774198-37774207 chr17:37774140-37774154 chr17:37774374-37774388
48	POLR2A	chr17:37773772-37773879	MCF-7	breast:	n/a	n/a
49	ZNF143	chr17:37773527-37774100	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37772840..37775144-chr17:37791860..37794775,2	MCF-7	breast:
2	chr17:37772115..37773801-chr17:37825160..37827936,2	K562	blood:
3	chr17:37769144..37771005-chr17:37773634..37775729,2	MCF-7	breast:
4	chr17:37768363..37771309-chr17:37772118..37774468,3	K562	blood:
5	chr17:37763822..37767125-chr17:37772337..37774939,3	MCF-7	breast:
6	chr17:37773259..37775797-chr17:37912370..37914095,2	MCF-7	breast:
7	chr17:37730305..37732141-chr17:37773715..37775844,2	MCF-7	breast:
8	chr17:37773404..37776321-chr17:37819728..37822241,2	MCF-7	breast:
9	chr17:37773726..37775508-chr17:37899665..37902639,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214546	TF binding region
ENSG00000173991	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000171532	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv908208	chr17:37749259-37781849	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv908210	chr17:37761202-37781849	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv908211	chr17:37765047-37782410	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv908212	chr17:37765047-37790340	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	esv3391098	chr17:37773251-37775799	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37771800-37776200	Enhancers	Fetal Brain Male	brain
2	chr17:37773200-37773800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr17:37773400-37773800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:37773400-37773800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr17:37773400-37773800	Enhancers	Primary B cells from cord blood	blood
6	chr17:37773400-37773800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr17:37773400-37773800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:37773400-37773800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:37773400-37773800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:37773400-37773800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
11	chr17:37773400-37773800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr17:37773400-37773800	Bivalent Enhancer	Fetal Thymus	thymus
13	chr17:37773400-37773800	Enhancers	Left Ventricle	heart
14	chr17:37773400-37773800	Enhancers	Ovary	ovary
15	chr17:37773400-37773800	Bivalent Enhancer	HUVEC	blood vessel
16	chr17:37773400-37774000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr17:37773400-37774000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
18	chr17:37773400-37774000	Flanking Active TSS	Fetal Brain Female	brain
19	chr17:37773400-37774000	Flanking Active TSS	Hela-S3	cervix
20	chr17:37773400-37775200	Bivalent/Poised TSS	NHEK	skin
21	chr17:37773600-37773800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:37773600-37773800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr17:37773600-37773800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr17:37773600-37773800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
25	chr17:37773600-37773800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr17:37773600-37773800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr17:37773600-37773800	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
28	chr17:37773600-37773800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:37773600-37773800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
30	chr17:37773600-37773800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr17:37773600-37773800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:37773600-37773800	Enhancers	Brain Anterior Caudate	brain
33	chr17:37773600-37773800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr17:37773600-37773800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr17:37773600-37773800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
36	chr17:37773600-37773800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
37	chr17:37773600-37773800	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr17:37773600-37773800	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr17:37773600-37773800	Bivalent Enhancer	Fetal Lung	lung
40	chr17:37773600-37773800	Bivalent Enhancer	Placenta	Placenta
41	chr17:37773600-37773800	Bivalent Enhancer	Fetal Stomach	stomach
42	chr17:37773600-37773800	Enhancers	Gastric	stomach
43	chr17:37773600-37773800	Enhancers	Lung	lung
44	chr17:37773600-37773800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
45	chr17:37773600-37773800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
46	chr17:37773600-37773800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
47	chr17:37773600-37773800	Genic enhancers	Right Atrium	heart
48	chr17:37773600-37773800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr17:37773600-37773800	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr17:37773600-37773800	Flanking Bivalent TSS/Enh	A549	lung

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