Variant report

Variant	rs548334352
Chromosome Location	chr11:46740292-46740293
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	SP1	chr11:46739576-46740303	A549	lung:	n/a	n/a
2	TCF12	chr11:46739345-46741076	A549	lung:	n/a	n/a
3	SMC3	chr11:46739671-46740871	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:46739575-46740302	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:46739684-46740294	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:46739568-46742670	HepG2	liver:	n/a	n/a
7	MXI1	chr11:46739656-46740994	HepG2	liver:	n/a	n/a
8	NR2F2	chr11:46739571-46741263	HepG2	liver:	n/a	n/a
9	TEAD4	chr11:46739611-46741017	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:46739545-46758468	HepG2	liver:	n/a	n/a
11	EP300	chr11:46739564-46740360	A549	lung:	n/a	chr11:46739739-46739752 chr11:46739892-46739901 chr11:46740042-46740058
12	MAZ	chr11:46739693-46740911	HepG2	liver:	n/a	n/a
13	MAX	chr11:46739543-46741963	HepG2	liver:	n/a	chr11:46741848-46741858
14	MAX	chr11:46739461-46741099	A549	lung:	n/a	n/a
15	MBD4	chr11:46739639-46741057	HepG2	liver:	n/a	n/a
16	MYBL2	chr11:46739485-46741464	HepG2	liver:	n/a	n/a
17	MBD4	chr11:46739585-46741341	HepG2	liver:	n/a	n/a
18	BCL3	chr11:46739616-46740815	A549	lung:	n/a	chr11:46740140-46740149
19	HEY1	chr11:46739579-46742651	HepG2	liver:	n/a	n/a
20	EP300	chr11:46739534-46740309	HepG2	liver:	n/a	chr11:46739739-46739752 chr11:46739892-46739901 chr11:46740042-46740058
21	MYBL2	chr11:46739593-46741377	HepG2	liver:	n/a	n/a
22	HDAC2	chr11:46739669-46740957	HepG2	liver:	n/a	n/a
23	ARID3A	chr11:46739747-46740958	HepG2	liver:	n/a	n/a
24	SP1	chr11:46739509-46741005	A549	lung:	n/a	chr11:46740539-46740553
25	FOXA2	chr11:46739464-46740434	HepG2	liver:	n/a	n/a
26	HNF4A	chr11:46739639-46740980	HepG2	liver:	n/a	chr11:46739787-46739802 chr11:46739837-46739855 chr11:46740679-46740694 chr11:46739838-46739853 chr11:46739789-46739801
27	RCOR1	chr11:46739701-46740938	HepG2	liver:	n/a	n/a
28	HDAC2	chr11:46739578-46740945	HepG2	liver:	n/a	n/a
29	NFIC	chr11:46739654-46741016	HepG2	liver:	n/a	n/a
30	FOXA1	chr11:46739482-46740333	HepG2	liver:	n/a	n/a
31	SP1	chr11:46739528-46741058	HepG2	liver:	n/a	chr11:46740539-46740553
32	NFIC	chr11:46739567-46741061	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:39 , 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	chr11:46739400-46740400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:46739400-46740400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:46739400-46740400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:46739400-46740400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr11:46739400-46741000	Enhancers	Fetal Intestine Large	intestine
10	chr11:46739400-46741000	Enhancers	Fetal Intestine Small	intestine
11	chr11:46739400-46741000	Enhancers	Stomach Mucosa	stomach
12	chr11:46739600-46740400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:46739600-46740400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr11:46739600-46740400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:46739600-46740400	Enhancers	Placenta	Placenta
16	chr11:46739600-46740400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr11:46739600-46740600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr11:46739600-46740600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:46739600-46740800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:46739600-46741000	Enhancers	Pancreas	Pancrea
21	chr11:46739600-46741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:46739800-46740400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:46739800-46740400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:46739800-46740600	Enhancers	Hela-S3	cervix
25	chr11:46739800-46740800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:46739800-46741000	Flanking Active TSS	A549	lung
27	chr11:46739800-46741400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:46739800-46742000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:46740000-46740400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:46740000-46740400	Enhancers	Duodenum Mucosa	Duodenum
32	chr11:46740000-46740600	Flanking Active TSS	Liver	Liver
33	chr11:46740000-46740600	Flanking Active TSS	HepG2	liver
34	chr11:46740000-46741400	Enhancers	Gastric	stomach
35	chr11:46740000-46742400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:46740200-46740600	Weak transcription	Right Ventricle	heart
37	chr11:46740200-46744400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:46740200-46745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:46740200-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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