Variant report

Variant	rs145969693
Chromosome Location	chr11:46740907-46740908
allele	C/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	RAD21	chr11:46740523-46741004	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:46739568-46742670	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:46740722-46740924	A549	lung:	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	CEBPB	chr11:46740524-46740932	HepG2	liver:	n/a	n/a
10	HNF4G	chr11:46740473-46740937	HepG2	liver:	n/a	chr11:46740679-46740694
11	RAD21	chr11:46740442-46740985	HepG2	liver:	n/a	n/a
12	TEAD4	chr11:46739611-46741017	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:46739545-46758468	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr11:46740567-46740931	HepG2	liver:	n/a	n/a
15	MAZ	chr11:46739693-46740911	HepG2	liver:	n/a	n/a
16	FOXA1	chr11:46740425-46740947	HepG2	liver:	n/a	n/a
17	CTCF	chr11:46740860-46741010	HepG2	liver:	n/a	n/a
18	TAF1	chr11:46740528-46741004	HepG2	liver:	n/a	n/a
19	NR3C1	chr11:46740555-46740985	A549	lung:	n/a	n/a
20	MAX	chr11:46739543-46741963	HepG2	liver:	n/a	chr11:46741848-46741858
21	FOXA1	chr11:46740450-46741314	HepG2	liver:	n/a	n/a
22	MAX	chr11:46739461-46741099	A549	lung:	n/a	n/a
23	SP1	chr11:46740377-46740935	A549	lung:	n/a	chr11:46740539-46740553
24	MBD4	chr11:46739639-46741057	HepG2	liver:	n/a	n/a
25	MYBL2	chr11:46739485-46741464	HepG2	liver:	n/a	n/a
26	RXRA	chr11:46740455-46740930	HepG2	liver:	n/a	chr11:46740554-46740576 chr11:46740555-46740574
27	MBD4	chr11:46739585-46741341	HepG2	liver:	n/a	n/a
28	REST	chr11:46740498-46741088	HepG2	liver:	n/a	n/a
29	YY1	chr11:46740309-46741072	HepG2	liver:	n/a	n/a
30	HEY1	chr11:46740465-46742012	HepG2	liver:	n/a	n/a
31	HEY1	chr11:46739579-46742651	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:46740457-46742643	HepG2	liver:	n/a	n/a
33	MYBL2	chr11:46739593-46741377	HepG2	liver:	n/a	n/a
34	MAX	chr11:46740534-46740945	HepG2	liver:	n/a	n/a
35	HDAC2	chr11:46739669-46740957	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:46740464-46741688	HepG2	liver:	n/a	n/a
37	ARID3A	chr11:46739747-46740958	HepG2	liver:	n/a	n/a
38	USF2	chr11:46740847-46740910	HepG2	liver:	n/a	n/a
39	EP300	chr11:46740427-46740979	HepG2	liver:	n/a	chr11:46740866-46740879
40	SP1	chr11:46739509-46741005	A549	lung:	n/a	chr11:46740539-46740553
41	NR3C1	chr11:46740534-46741024	A549	lung:	n/a	n/a
42	CEBPD	chr11:46740489-46741094	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:46740525-46741766	HepG2	liver:	n/a	n/a
44	TAF1	chr11:46740552-46741855	HepG2	liver:	n/a	n/a
45	RAD21	chr11:46740566-46740940	HepG2	liver:	n/a	n/a
46	EP300	chr11:46740335-46740969	HepG2	liver:	n/a	chr11:46740866-46740879
47	POLR2A	chr11:46740602-46741051	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:46740441-46741919	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr11:46740526-46740909	HepG2	liver:	n/a	n/a
50	HNF4A	chr11:46739639-46740980	HepG2	liver:	n/a	chr11:46739787-46739802 chr11:46739837-46739855 chr11:46740679-46740694 chr11:46739838-46739853 chr11:46739789-46739801

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46721125..46723767-chr11:46740816..46743369,3	K562	blood:
2	chr11:46402912..46405362-chr11:46740261..46742073,2	K562	blood:

Variant related genes	Relation type
F2	TF binding region
ENSG00000175213	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000175220	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv3474063	chr11:46740876-46745174	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3474074	chr11:46740876-46745174	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 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	chr11:46739600-46741000	Enhancers	Pancreas	Pancrea
7	chr11:46739600-46741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:46739800-46741000	Flanking Active TSS	A549	lung
9	chr11:46739800-46741400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:46739800-46742000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:46740000-46741400	Enhancers	Gastric	stomach
13	chr11:46740000-46742400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:46740200-46744400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:46740200-46745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:46740200-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:46740400-46745600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:46740600-46741000	Enhancers	Right Ventricle	heart
19	chr11:46740600-46741200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:46740600-46742800	Active TSS	Liver	Liver
21	chr11:46740800-46741400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:46740800-46741800	Bivalent/Poised TSS	HepG2	liver

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