Variant report

Variant	rs539741396
Chromosome Location	chr11:46740470-46740471
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	TCF12	chr11:46739345-46741076	A549	lung:	n/a	n/a
2	SMC3	chr11:46739671-46740871	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:46739568-46742670	HepG2	liver:	n/a	n/a
4	MXI1	chr11:46739656-46740994	HepG2	liver:	n/a	n/a
5	NR2F2	chr11:46739571-46741263	HepG2	liver:	n/a	n/a
6	RAD21	chr11:46740442-46740985	HepG2	liver:	n/a	n/a
7	TEAD4	chr11:46739611-46741017	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:46739545-46758468	HepG2	liver:	n/a	n/a
9	MAZ	chr11:46739693-46740911	HepG2	liver:	n/a	n/a
10	FOXA1	chr11:46740425-46740947	HepG2	liver:	n/a	n/a
11	MAX	chr11:46739543-46741963	HepG2	liver:	n/a	chr11:46741848-46741858
12	FOXA1	chr11:46740450-46741314	HepG2	liver:	n/a	n/a
13	MAX	chr11:46739461-46741099	A549	lung:	n/a	n/a
14	SP1	chr11:46740377-46740935	A549	lung:	n/a	chr11:46740539-46740553
15	MBD4	chr11:46739639-46741057	HepG2	liver:	n/a	n/a
16	MYBL2	chr11:46739485-46741464	HepG2	liver:	n/a	n/a
17	CEBPD	chr11:46740419-46740796	HepG2	liver:	n/a	n/a
18	RXRA	chr11:46740455-46740930	HepG2	liver:	n/a	chr11:46740554-46740576 chr11:46740555-46740574
19	MBD4	chr11:46739585-46741341	HepG2	liver:	n/a	n/a
20	HNF4A	chr11:46740449-46740884	HepG2	liver:	n/a	chr11:46740679-46740694
21	BCL3	chr11:46739616-46740815	A549	lung:	n/a	chr11:46740140-46740149
22	YY1	chr11:46740309-46741072	HepG2	liver:	n/a	n/a
23	HEY1	chr11:46740465-46742012	HepG2	liver:	n/a	n/a
24	HEY1	chr11:46739579-46742651	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:46740457-46742643	HepG2	liver:	n/a	n/a
26	MYBL2	chr11:46739593-46741377	HepG2	liver:	n/a	n/a
27	HDAC2	chr11:46739669-46740957	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:46740464-46741688	HepG2	liver:	n/a	n/a
29	ARID3A	chr11:46739747-46740958	HepG2	liver:	n/a	n/a
30	EP300	chr11:46740427-46740979	HepG2	liver:	n/a	chr11:46740866-46740879
31	SP1	chr11:46739509-46741005	A549	lung:	n/a	chr11:46740539-46740553
32	RCOR1	chr11:46740398-46740483	K562	blood:	n/a	n/a
33	EP300	chr11:46740335-46740969	HepG2	liver:	n/a	chr11:46740866-46740879
34	POLR2A	chr11:46740441-46741919	HepG2	liver:	n/a	n/a
35	HNF4A	chr11:46739639-46740980	HepG2	liver:	n/a	chr11:46739787-46739802 chr11:46739837-46739855 chr11:46740679-46740694 chr11:46739838-46739853 chr11:46739789-46739801
36	RCOR1	chr11:46739701-46740938	HepG2	liver:	n/a	n/a
37	HDAC2	chr11:46739578-46740945	HepG2	liver:	n/a	n/a
38	CEBPB	chr11:46740455-46740974	HepG2	liver:	n/a	n/a
39	NFIC	chr11:46739654-46741016	HepG2	liver:	n/a	n/a
40	SP1	chr11:46739528-46741058	HepG2	liver:	n/a	chr11:46740539-46740553
41	NFIC	chr11:46739567-46741061	HepG2	liver:	n/a	n/a
42	YY1	chr11:46740445-46741622	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46402912..46405362-chr11:46740261..46742073,2	K562	blood:

Variant related genes	Relation type
F2	TF binding region
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv897322	chr11:46739748-46748916	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46728800-46745600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:46728800-46745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:46729600-46740600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:46730200-46740600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:46739400-46741000	Enhancers	Fetal Intestine Large	intestine
6	chr11:46739400-46741000	Enhancers	Fetal Intestine Small	intestine
7	chr11:46739400-46741000	Enhancers	Stomach Mucosa	stomach
8	chr11:46739600-46740600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr11:46739600-46740600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:46739600-46740800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:46739600-46741000	Enhancers	Pancreas	Pancrea
12	chr11:46739600-46741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:46739800-46740600	Enhancers	Hela-S3	cervix
14	chr11:46739800-46740800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr11:46739800-46741000	Flanking Active TSS	A549	lung
16	chr11:46739800-46741400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:46739800-46742000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:46740000-46740600	Flanking Active TSS	Liver	Liver
20	chr11:46740000-46740600	Flanking Active TSS	HepG2	liver
21	chr11:46740000-46741400	Enhancers	Gastric	stomach
22	chr11:46740000-46742400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:46740200-46740600	Weak transcription	Right Ventricle	heart
24	chr11:46740200-46744400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:46740200-46745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:46740200-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:46740400-46745600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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