Variant report

Variant	rs574617756
Chromosome Location	chr17:45772503-45772504
allele	G/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	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	MYC	chr17:45772410-45772596	MCF-7	breast:	n/a	chr17:45772422-45772441 chr17:45772436-45772452 chr17:45772427-45772436
11	BACH1	chr17:45772402-45772927	H1-hESC	embryonic stem cell:	n/a	chr17:45772677-45772691
12	MTA3	chr17:45772188-45772903	GM12878	blood:	n/a	n/a
13	EBF1	chr17:45772290-45772824	GM12878	blood:	n/a	n/a
14	E2F6	chr17:45772369-45772511	K562	blood:	n/a	n/a
15	EGR1	chr17:45772321-45772787	K562	blood:	n/a	chr17:45772457-45772470 chr17:45772471-45772480
16	USF1	chr17:45772085-45772782	SK-N-SH	brain:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
17	CTBP2	chr17:45771527-45773901	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr17:45772136-45772690	GM12878	blood:	n/a	n/a
19	MYC	chr17:45772276-45772916	K562	blood:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772436-45772452 chr17:45772427-45772436
20	USF1	chr17:45772256-45772555	H1-hESC	embryonic stem cell:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
21	USF1	chr17:45772082-45772701	SK-N-SH_RA	brain:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
22	REST	chr17:45772244-45772594	GM12878	blood:	n/a	chr17:45772405-45772414 chr17:45772364-45772382 chr17:45772366-45772379 chr17:45772348-45772358
23	HMGN3	chr17:45772266-45773088	K562	blood:	n/a	n/a
24	ZBTB7A	chr17:45772269-45773168	ECC-1	luminal epithelium:	n/a	chr17:45772325-45772333
25	USF1	chr17:45772207-45772584	K562	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
26	EGR1	chr17:45772315-45773031	K562	blood:	n/a	chr17:45772457-45772470 chr17:45772924-45772933 chr17:45772471-45772480
27	BHLHE40	chr17:45771791-45772796	GM12878	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
28	POLR2A	chr17:45772124-45773191	SK-N-MC	brain:	n/a	n/a
29	MAZ	chr17:45772343-45772818	GM12878	blood:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772436-45772452 chr17:45772427-45772436
30	E2F6	chr17:45772259-45772682	K562	blood:	n/a	n/a
31	USF1	chr17:45772131-45772792	ECC-1	luminal epithelium:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
32	USF1	chr17:45772185-45772709	ECC-1	luminal epithelium:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
33	MAX	chr17:45772359-45772628	K562	blood:	n/a	chr17:45772422-45772441 chr17:45772436-45772452 chr17:45772427-45772436
34	FOXP2	chr17:45772276-45772607	PFSK-1	brain:	n/a	n/a
35	SIN3AK20	chr17:45772262-45772550	SK-N-SH	brain:	n/a	n/a
36	USF1	chr17:45772228-45772632	K562	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
37	STAT1	chr17:45772445-45772536	GM12878	blood:	n/a	n/a
38	PAX5	chr17:45772247-45772552	GM12892	blood:	n/a	n/a
39	SIN3AK20	chr17:45772076-45772553	PANC-1	pancreas:	n/a	n/a
40	FOS	chr17:45772444-45773068	HUVEC	blood vessel:	n/a	chr17:45772680-45772688 chr17:45772676-45772687 chr17:45772680-45772688 chr17:45772681-45772688
41	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
42	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
43	HEY1	chr17:45772389-45772622	K562	blood:	n/a	n/a
44	MYC	chr17:45772305-45772645	MCF-7	breast:	n/a	chr17:45772422-45772441 chr17:45772436-45772452 chr17:45772427-45772436
45	NRF1	chr17:45772148-45772811	SK-N-SH	brain:	n/a	n/a
46	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
47	ZNF143	chr17:45772373-45772534	GM12878	blood:	n/a	n/a
48	USF2	chr17:45772349-45772546	H1-hESC	embryonic stem cell:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
49	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
50	POLR2A	chr17:45772199-45772511	HCT-116	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:45772467-45772517	GM12878	blood:	n/a
2	chr17:45772473-45772523	K562	blood:	n/a
3	chr17:45772473-45772523	BE2_C	brain:	n/a
4	chr17:45772473-45772523	ovcar-3	ovarian:	n/a
5	chr17:45772467-45772517	CMK	blood:	n/a
6	chr17:45772467-45772517	MCF-7	breast:	n/a
7	chr17:45772467-45772517	AG09319	gingival:	n/a
8	chr17:45772467-45772517	NT2-D1	testis:	n/a
9	chr17:45772467-45772517	ovcar-3	ovarian:	n/a
10	chr17:45772473-45772523	T-47D	breast:	n/a
11	chr17:45772467-45772517	HNPCEpiC	eye:	n/a
12	chr17:45772473-45772523	H1-hESC	embryonic stem cell:	embryo
13	chr17:45772473-45772523	HUVEC	blood vessel:	n/a
14	chr17:45772473-45772523	AG04449	skin:	fetal
15	chr17:45772473-45772523	MCF10A-Er-Src	breast:	n/a
16	chr17:45772467-45772517	H1-hESC	embryonic stem cell:	embryo
17	chr17:45772467-45772517	HRE	kidney:	n/a
18	chr17:45772473-45772523	HEK293	kidney:	embryo
19	chr17:45772473-45772523	NH-A	brain:	n/a
20	chr17:45772467-45772517	SK-N-SH_RA	brain:	n/a
21	chr17:45772473-45772523	SAEC	small airway:	n/a
22	chr17:45772473-45772523	AG09309	skin:	n/a
23	chr17:45772473-45772523	Hepatocyte	liver:	n/a
24	chr17:45772467-45772517	LNCaP	prostate:	n/a
25	chr17:45772467-45772517	K562	blood:	n/a
26	chr17:45772473-45772523	AG04450	lung:	fetal
27	chr17:45772473-45772523	HCPEpiC	choroid plexus:	n/a
28	chr17:45772473-45772523	Jurkat	blood:	n/a
29	chr17:45772473-45772523	A549	lung:	n/a
30	chr17:45772473-45772523	NB4	blood:	n/a
31	chr17:45772473-45772523	HMEC	breast:	n/a
32	chr17:45772473-45772523	GM12891	blood:	n/a
33	chr17:45772473-45772523	HRPEpiC	eye:	n/a
34	chr17:45772467-45772517	NHDF-neo	bronchial:	n/a
35	chr17:45772467-45772517	HCM	heart:	n/a
36	chr17:45772467-45772517	PFSK-1	brain:	n/a
37	chr17:45772473-45772523	Hela-S3	cervix:	n/a
38	chr17:45772473-45772523	LNCaP	prostate:	n/a
39	chr17:45772473-45772523	HEEpiC	esophagus:	n/a
40	chr17:45772473-45772523	CMK	blood:	n/a
41	chr17:45772473-45772523	ProgFib	skin:	n/a
42	chr17:45772473-45772523	HCF	heart:	n/a
43	chr17:45772467-45772517	NH-A	brain:	n/a
44	chr17:45772467-45772517	HEEpiC	esophagus:	n/a
45	chr17:45772467-45772517	ProgFib	skin:	n/a
46	chr17:45772473-45772523	NHBE	bronchial:	n/a
47	chr17:45772467-45772517	Jurkat	blood:	n/a
48	chr17:45772467-45772517	MCF10A-Er-Src	breast:	n/a
49	chr17:45772473-45772523	SK-N-MC	brain:	n/a
50	chr17:45772467-45772517	HAEpiC	amniotic membrane:	n/a

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	chr17:45768574..45772572-chr17:48939145..48944059,6	MCF-7	breast:
4	chr17:45748954..45758231-chr17:45766475..45774270,24	MCF-7	breast:
5	chr17:45759177..45766275-chr17:45767435..45773662,12	K562	blood:
6	chr17:45751758..45755455-chr17:45769353..45774872,5	MCF-7	breast:
7	chr17:45769286..45774957-chr17:48935664..48947128,23	MCF-7	breast:
8	chr17:45725833..45728916-chr17:45770004..45772680,3	MCF-7	breast:
9	chr17:45770755..45772966-chr17:48944233..48946026,2	MCF-7	breast:
10	chr17:45771011..45773166-chr17:45884072..45886713,2	MCF-7	breast:

Variant related genes	Relation type
TBKBP1	TF binding region
TBKBP1	CpG island
ENSG00000006025	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000229980	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: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	chr17:45770800-45772800	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	chr17:45771000-45772600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr17:45771000-45772600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:45771000-45772600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:45771000-45772600	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr17:45771000-45772600	Active TSS	Small Intestine	intestine
17	chr17:45771000-45772800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:45771000-45773000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:45771000-45773200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:45771000-45773200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr17:45771000-45773200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr17:45771000-45773200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr17:45771000-45773400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:45771000-45773400	Active TSS	Colon Smooth Muscle	Colon
25	chr17:45771000-45773400	Active TSS	Psoas Muscle	Psoas
26	chr17:45771000-45773600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr17:45771000-45773800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr17:45771200-45772600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr17:45771200-45772600	Active TSS	Spleen	Spleen
30	chr17:45771600-45772600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:45771800-45773000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr17:45771800-45773200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
33	chr17:45772000-45773600	Active TSS	Fetal Kidney	kidney
34	chr17:45772200-45772600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:45772200-45772600	Flanking Active TSS	Liver	Liver
36	chr17:45772200-45772600	Flanking Active TSS	A549	lung
37	chr17:45772200-45772800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:45772200-45772800	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr17:45772200-45772800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr17:45772200-45772800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr17:45772200-45772800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
42	chr17:45772200-45772800	Flanking Bivalent TSS/Enh	Dnd41	blood
43	chr17:45772200-45772800	Flanking Active TSS	NH-A	brain
44	chr17:45772200-45773000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr17:45772200-45773000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr17:45772200-45773000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr17:45772200-45773000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr17:45772200-45773000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr17:45772200-45773000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:45772200-45773000	Flanking Bivalent TSS/Enh	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links