Variant report

Variant	rs550304022
Chromosome Location	chr11:46740644-46740645
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	TBP	chr11:46740560-46740959	HepG2	liver:	n/a	n/a
2	TCF12	chr11:46739345-46741076	A549	lung:	n/a	n/a
3	MYC	chr11:46740561-46740937	HepG2	liver:	n/a	n/a
4	SMC3	chr11:46739671-46740871	HepG2	liver:	n/a	n/a
5	RAD21	chr11:46740523-46741004	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	TCF12	chr11:46740483-46740897	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:46740603-46740837	A549	lung:	n/a	n/a
11	CEBPB	chr11:46740524-46740932	HepG2	liver:	n/a	n/a
12	HNF4G	chr11:46740473-46740937	HepG2	liver:	n/a	chr11:46740679-46740694
13	RAD21	chr11:46740442-46740985	HepG2	liver:	n/a	n/a
14	TEAD4	chr11:46739611-46741017	HepG2	liver:	n/a	n/a
15	BRCA1	chr11:46740619-46740828	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:46739545-46758468	HepG2	liver:	n/a	n/a
17	SIN3AK20	chr11:46740567-46740931	HepG2	liver:	n/a	n/a
18	CHD2	chr11:46740517-46740886	HepG2	liver:	n/a	n/a
19	JUND	chr11:46740529-46740873	HepG2	liver:	n/a	n/a
20	MAZ	chr11:46739693-46740911	HepG2	liver:	n/a	n/a
21	FOXA1	chr11:46740425-46740947	HepG2	liver:	n/a	n/a
22	TAF1	chr11:46740528-46741004	HepG2	liver:	n/a	n/a
23	NR3C1	chr11:46740555-46740985	A549	lung:	n/a	n/a
24	MAX	chr11:46739543-46741963	HepG2	liver:	n/a	chr11:46741848-46741858
25	FOXA1	chr11:46740450-46741314	HepG2	liver:	n/a	n/a
26	MAX	chr11:46739461-46741099	A549	lung:	n/a	n/a
27	SP1	chr11:46740377-46740935	A549	lung:	n/a	chr11:46740539-46740553
28	FOXA2	chr11:46740501-46740898	HepG2	liver:	n/a	n/a
29	MBD4	chr11:46739639-46741057	HepG2	liver:	n/a	n/a
30	MYBL2	chr11:46739485-46741464	HepG2	liver:	n/a	n/a
31	JUND	chr11:46740561-46740885	HepG2	liver:	n/a	n/a
32	CEBPD	chr11:46740419-46740796	HepG2	liver:	n/a	n/a
33	RXRA	chr11:46740455-46740930	HepG2	liver:	n/a	chr11:46740554-46740576 chr11:46740555-46740574
34	MBD4	chr11:46739585-46741341	HepG2	liver:	n/a	n/a
35	MAFK	chr11:46740583-46740906	HepG2	liver:	n/a	n/a
36	HNF4A	chr11:46740449-46740884	HepG2	liver:	n/a	chr11:46740679-46740694
37	REST	chr11:46740498-46741088	HepG2	liver:	n/a	n/a
38	BCL3	chr11:46739616-46740815	A549	lung:	n/a	chr11:46740140-46740149
39	HNF4A	chr11:46740579-46740870	HepG2	liver:	n/a	chr11:46740679-46740694
40	YY1	chr11:46740309-46741072	HepG2	liver:	n/a	n/a
41	HEY1	chr11:46740465-46742012	HepG2	liver:	n/a	n/a
42	HEY1	chr11:46739579-46742651	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:46740457-46742643	HepG2	liver:	n/a	n/a
44	MYBL2	chr11:46739593-46741377	HepG2	liver:	n/a	n/a
45	MAX	chr11:46740534-46740945	HepG2	liver:	n/a	n/a
46	HDAC2	chr11:46739669-46740957	HepG2	liver:	n/a	n/a
47	CEBPB	chr11:46740566-46740820	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:46740464-46741688	HepG2	liver:	n/a	n/a
49	ARID3A	chr11:46739747-46740958	HepG2	liver:	n/a	n/a
50	EP300	chr11:46740427-46740979	HepG2	liver:	n/a	chr11:46740866-46740879

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:25 , 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	chr11:46739400-46741000	Enhancers	Fetal Intestine Large	intestine
4	chr11:46739400-46741000	Enhancers	Fetal Intestine Small	intestine
5	chr11:46739400-46741000	Enhancers	Stomach Mucosa	stomach
6	chr11:46739600-46740800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:46739600-46741000	Enhancers	Pancreas	Pancrea
8	chr11:46739600-46741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:46739800-46740800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr11:46739800-46741000	Flanking Active TSS	A549	lung
11	chr11:46739800-46741400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:46739800-46742000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:46740000-46741400	Enhancers	Gastric	stomach
15	chr11:46740000-46742400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:46740200-46744400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:46740200-46745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:46740200-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:46740400-46745600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:46740600-46740800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:46740600-46740800	Enhancers	Fetal Muscle Leg	muscle
22	chr11:46740600-46740800	Active TSS	HepG2	liver
23	chr11:46740600-46741000	Enhancers	Right Ventricle	heart
24	chr11:46740600-46741200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:46740600-46742800	Active TSS	Liver	Liver

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