Variant report

Variant	rs563413265
Chromosome Location	chr9:43133235-43133236
allele	A/C
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	HEY1	chr9:43133196-43133783	K562	blood:	n/a	n/a
2	SIN3AK20	chr9:43133193-43133396	HepG2	liver:	n/a	n/a
3	NR3C1	chr9:43132959-43134725	A549	lung:	n/a	chr9:43134293-43134311 chr9:43134489-43134505 chr9:43134490-43134505 chr9:43134490-43134504
4	PAX5	chr9:43133166-43134249	GM12878	blood:	n/a	n/a
5	FOSL2	chr9:43132958-43135150	HepG2	liver:	n/a	chr9:43133948-43133957 chr9:43134391-43134400
6	RXRA	chr9:43133164-43133478	HepG2	liver:	n/a	n/a
7	ZBTB33	chr9:43133208-43133519	GM12878	blood:	n/a	n/a
8	RXRA	chr9:43133094-43133513	HepG2	liver:	n/a	n/a
9	JUND	chr9:43133111-43134090	HepG2	liver:	n/a	chr9:43133948-43133957
10	PAX5	chr9:43133217-43133393	GM12878	blood:	n/a	n/a
11	IRF4	chr9:43133129-43133505	GM12878	blood:	n/a	n/a
12	PAX5	chr9:43133019-43135192	GM12878	blood:	n/a	n/a
13	EP300	chr9:43133153-43133308	GM12878	blood:	n/a	n/a
14	FOXA2	chr9:43133021-43134267	A549	lung:	n/a	n/a
15	PAX5	chr9:43133158-43134635	GM12878	blood:	n/a	n/a
16	PBX3	chr9:43133193-43133444	GM12878	blood:	n/a	n/a
17	POU2F2	chr9:43132958-43134647	GM12891	blood:	n/a	chr9:43134326-43134338
18	GABPA	chr9:43133218-43133430	Hela-S3	cervix:	n/a	n/a
19	USF1	chr9:43133216-43133951	HepG2	liver:	n/a	n/a
20	BATF	chr9:43133225-43133467	GM12878	blood:	n/a	n/a
21	SP1	chr9:43133207-43134121	GM12878	blood:	n/a	chr9:43133946-43133955 chr9:43134086-43134100
22	POU2F2	chr9:43133061-43135339	GM12878	blood:	n/a	chr9:43134326-43134338 chr9:43135290-43135311
23	TCF12	chr9:43133211-43133409	GM12878	blood:	n/a	n/a
24	TCF3	chr9:43133057-43133445	GM12878	blood:	n/a	n/a
25	TCF12	chr9:43133224-43133410	HepG2	liver:	n/a	n/a
26	EP300	chr9:43133158-43133694	GM12878	blood:	n/a	n/a
27	TCF12	chr9:43133043-43133469	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr9:43133193-43133431	HepG2	liver:	n/a	n/a
29	HEY1	chr9:43133145-43133458	K562	blood:	n/a	n/a
30	JUND	chr9:43133221-43133416	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000232866	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826083	chr9:42228512-43187726	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv1822891	chr9:42316318-43198208	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv982243	chr9:42995364-43160734	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv893173	chr9:43034822-43998470	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv1829975	chr9:43045290-43831337	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1032639	chr9:43064834-43701826	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1025182	chr9:43064834-43705240	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1027611	chr9:43064834-43747241	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1027107	chr9:43064834-43776906	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1034498	chr9:43064834-43780897	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv1019827	chr9:43064834-43790334	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1030625	chr9:43064834-43800174	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv1033674	chr9:43127213-43776906	Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1016572	chr9:43127213-43800174	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
15	esv3324910	chr9:43132981-43135529	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43133000-43133800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:43133000-43133800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:43133000-43134200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:43133000-43134200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:43133000-43134200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:43133000-43134800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:43133000-43135000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:43133000-43135000	Active TSS	Brain Germinal Matrix	brain
9	chr9:43133200-43134000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr9:43133200-43134000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:43133200-43134200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr9:43133200-43134200	Active TSS	Brain Angular Gyrus	brain
13	chr9:43133200-43134200	Active TSS	Esophagus	oesophagus
14	chr9:43133200-43134200	Active TSS	Right Ventricle	heart

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