Variant report

Variant	rs16942912
Chromosome Location	chr17:45770554-45770555
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	NFIC	chr17:45770524-45771414	ECC-1	luminal epithelium:	n/a	chr17:45770725-45770742 chr17:45770725-45770741
2	ELF1	chr17:45770174-45770606	HepG2	liver:	n/a	chr17:45770407-45770420
3	MAX	chr17:45770401-45770601	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr17:45770370-45771064	MCF-7	breast:	n/a	n/a
5	EP300	chr17:45770453-45770584	HepG2	liver:	n/a	n/a
6	ZNF263	chr17:45769500-45771367	HEK293-T-REx	kidney:	n/a	chr17:45770108-45770117 chr17:45771051-45771060
7	MAX	chr17:45770508-45770944	ECC-1	luminal epithelium:	n/a	n/a
8	ELF1	chr17:45770210-45770611	K562	blood:	n/a	chr17:45770407-45770420
9	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
10	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
11	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
12	MAX	chr17:45770411-45772191	A549	lung:	n/a	chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
13	MXI1	chr17:45768997-45773036	SK-N-SH	brain:	n/a	chr17:45771274-45771283 chr17:45771276-45771285
14	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
15	ESR1	chr17:45770391-45770850	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr17:45770218-45771375	HepG2	liver:	n/a	n/a
17	ESR1	chr17:45770439-45770910	ECC-1	luminal epithelium:	n/a	n/a
18	NR2F2	chr17:45770270-45771139	MCF-7	breast:	n/a	n/a
19	RAD21	chr17:45770505-45770957	MCF-7	breast:	n/a	n/a
20	POLR2A	chr17:45770443-45770796	HepG2	liver:	n/a	n/a
21	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	chr17:45769360..45771428-chr17:45820876..45822784,2	K562	blood:
3	chr17:45759280..45761453-chr17:45769227..45771829,2	MCF-7	breast:
4	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
5	chr17:45768574..45772572-chr17:48939145..48944059,6	MCF-7	breast:
6	chr17:45750680..45752011-chr17:45770212..45771248,37	MCF-7	breast:
7	chr17:45748954..45758231-chr17:45766475..45774270,24	MCF-7	breast:
8	chr17:45744847..45747701-chr17:45770377..45772396,2	MCF-7	breast:
9	chr17:45770024..45772308-chr17:49229388..49231446,2	MCF-7	breast:
10	chr17:45759177..45766275-chr17:45767435..45773662,12	K562	blood:
11	chr17:45769138..45771658-chr17:46124750..46126805,2	MCF-7	breast:
12	chr17:45750780..45752037-chr17:45770257..45771137,11	MCF-7	breast:
13	chr17:45751758..45755455-chr17:45769353..45774872,5	MCF-7	breast:
14	chr17:45769286..45774957-chr17:48935664..48947128,23	MCF-7	breast:
15	chr17:45725833..45728916-chr17:45770004..45772680,3	MCF-7	breast:
16	chr17:7854842..7855345-chr17:45770546..45771148,2	MCF-7	breast:
17	chr17:45769943..45772007-chr17:45907461..45910429,3	K562	blood:
18	chr17:45750793..45752075-chr17:45770216..45771134,22	MCF-7	breast:

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11867878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11869026	0.86[CHB][hapmap];0.92[CHD][hapmap]
rs11869926	0.86[CHB][hapmap];0.92[CHD][hapmap]
rs11870516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809866	0.86[CHB][hapmap]
rs7208944	1.00[LWK][hapmap]
rs7221355	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223592	1.00[LWK][hapmap]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45758200-45770600	Weak transcription	Fetal Brain Male	brain
2	chr17:45762600-45770600	Weak transcription	Aorta	Aorta
3	chr17:45763400-45770800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45764800-45770600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:45765000-45770600	Weak transcription	HMEC	breast
6	chr17:45765200-45770600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr17:45765400-45770600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:45765400-45770600	Weak transcription	Fetal Brain Female	brain
9	chr17:45767800-45770600	Weak transcription	HSMMtube	muscle
10	chr17:45768800-45770600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:45769400-45770600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:45769400-45770600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr17:45769400-45770800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:45769600-45770600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr17:45769600-45770600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr17:45769600-45770600	Enhancers	Fetal Muscle Trunk	muscle
17	chr17:45769600-45770600	Enhancers	HUVEC	blood vessel
18	chr17:45769600-45770800	Enhancers	Psoas Muscle	Psoas
19	chr17:45769600-45771000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:45769800-45770600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:45769800-45770600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:45769800-45770600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:45769800-45770600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr17:45769800-45770600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:45769800-45770600	Enhancers	Brain Anterior Caudate	brain
26	chr17:45769800-45770600	Enhancers	Right Atrium	heart
27	chr17:45769800-45770600	Enhancers	Right Ventricle	heart
28	chr17:45769800-45770600	Enhancers	K562	blood
29	chr17:45769800-45770800	Bivalent Enhancer	Fetal Thymus	thymus
30	chr17:45769800-45771000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr17:45769800-45771000	Enhancers	Spleen	Spleen
32	chr17:45769800-45771200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr17:45770000-45770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:45770000-45770600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:45770000-45770600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr17:45770000-45770600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr17:45770000-45770600	Enhancers	Brain Hippocampus Middle	brain
38	chr17:45770000-45770600	Enhancers	Colonic Mucosa	Colon
39	chr17:45770000-45770600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr17:45770000-45770600	Enhancers	Fetal Stomach	stomach
41	chr17:45770000-45770600	Enhancers	Pancreas	Pancrea
42	chr17:45770000-45770600	Enhancers	Rectal Smooth Muscle	rectum
43	chr17:45770000-45770600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr17:45770000-45770800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:45770000-45770800	Enhancers	Ovary	ovary
46	chr17:45770000-45771000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr17:45770000-45771000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr17:45770000-45771000	Bivalent Enhancer	Placenta	Placenta
49	chr17:45770000-45771200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr17:45770000-45771200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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