Variant report

Variant	rs532691457
Chromosome Location	chr17:45770730-45770731
allele	A/G
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	CTCF	chr17:45770714-45770804	GM12878	blood:	n/a	n/a
2	WRNIP1	chr17:45770557-45770780	GM12878	blood:	n/a	n/a
3	TAL1	chr17:45770649-45770822	K562	blood:	n/a	n/a
4	NFIC	chr17:45770524-45771414	ECC-1	luminal epithelium:	n/a	chr17:45770725-45770742 chr17:45770725-45770741
5	TBP	chr17:45770664-45770764	K562	blood:	n/a	n/a
6	RAD21	chr17:45770370-45771064	MCF-7	breast:	n/a	n/a
7	ZNF263	chr17:45769500-45771367	HEK293-T-REx	kidney:	n/a	chr17:45770108-45770117 chr17:45771051-45771060
8	MAX	chr17:45770508-45770944	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr17:45770630-45770876	Hela-S3	cervix:	n/a	n/a
10	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
11	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
12	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
13	POLR2A	chr17:45770562-45773861	SK-N-MC	brain:	n/a	n/a
14	MAX	chr17:45770411-45772191	A549	lung:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
15	SMC3	chr17:45770697-45770770	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr17:45770702-45772067	GM12878	blood:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45771275-45771284 chr17:45771275-45771284
17	MXI1	chr17:45768997-45773036	SK-N-SH	brain:	n/a	chr17:45771274-45771283 chr17:45771276-45771285
18	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
19	ESR1	chr17:45770391-45770850	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr17:45770218-45771375	HepG2	liver:	n/a	n/a
21	ESR1	chr17:45770439-45770910	ECC-1	luminal epithelium:	n/a	n/a
22	NR2F2	chr17:45770270-45771139	MCF-7	breast:	n/a	n/a
23	CTCF	chr17:45770707-45770838	MCF-7	breast:	n/a	n/a
24	RAD21	chr17:45770505-45770957	MCF-7	breast:	n/a	n/a
25	POLR2A	chr17:45770443-45770796	HepG2	liver:	n/a	n/a
26	MYC	chr17:45770681-45770776	HepG2	liver:	n/a	n/a
27	NR2F2	chr17:45770381-45771086	MCF-7	breast:	n/a	n/a
28	CTCF	chr17:45770673-45770873	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
2	chr17:45770607..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	chr17:45750793..45752075-chr17:45770216..45771134,22	MCF-7	breast:

Variant related genes	Relation type
TBKBP1	TF binding region
ENSG00000229980	Chromatin interaction
ENSG00000239672	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000243678	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000011052	Chromatin interaction
ENSG00000263766	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000108424	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45763400-45770800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr17:45769400-45770800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:45769600-45770800	Enhancers	Psoas Muscle	Psoas
4	chr17:45769600-45771000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:45769800-45770800	Bivalent Enhancer	Fetal Thymus	thymus
6	chr17:45769800-45771000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr17:45769800-45771000	Enhancers	Spleen	Spleen
8	chr17:45769800-45771200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr17:45770000-45770800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:45770000-45770800	Enhancers	Ovary	ovary
11	chr17:45770000-45771000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr17:45770000-45771000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr17:45770000-45771000	Bivalent Enhancer	Placenta	Placenta
14	chr17:45770000-45771200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr17:45770000-45771200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:45770000-45771200	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr17:45770200-45770800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr17:45770200-45770800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr17:45770200-45770800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:45770200-45770800	Enhancers	Liver	Liver
21	chr17:45770200-45770800	Enhancers	Brain Germinal Matrix	brain
22	chr17:45770200-45770800	Enhancers	Brain Substantia Nigra	brain
23	chr17:45770200-45770800	Bivalent Enhancer	Thymus	Thymus
24	chr17:45770200-45770800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
25	chr17:45770200-45771000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr17:45770200-45771000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:45770200-45771000	Enhancers	Small Intestine	intestine
28	chr17:45770200-45771000	Flanking Active TSS	HepG2	liver
29	chr17:45770200-45771200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr17:45770200-45771200	Enhancers	Fetal Heart	heart
31	chr17:45770400-45770800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr17:45770400-45770800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
33	chr17:45770400-45770800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:45770400-45770800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:45770400-45770800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr17:45770400-45770800	Enhancers	NH-A	brain
37	chr17:45770400-45770800	Bivalent Enhancer	NHEK	skin
38	chr17:45770400-45771000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:45770400-45771000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:45770400-45771000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:45770400-45771000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr17:45770400-45771000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr17:45770400-45771000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:45770400-45771000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr17:45770400-45771000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr17:45770400-45771000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr17:45770400-45771000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:45770400-45771000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr17:45770400-45771000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:45770400-45771000	Flanking Active TSS	Duodenum Mucosa	Duodenum

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