Variant report

Variant	rs570282407
Chromosome Location	chr11:46740180-46740181
allele	A/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	ELF1	chr11:46739619-46740278	HepG2	liver:	n/a	chr11:46739889-46739902
3	TCF12	chr11:46739345-46741076	A549	lung:	n/a	n/a
4	FOXA2	chr11:46739570-46740193	A549	lung:	n/a	n/a
5	SMC3	chr11:46739671-46740871	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:46739575-46740302	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:46739684-46740294	HepG2	liver:	n/a	n/a
8	TCF12	chr11:46739659-46740210	HepG2	liver:	n/a	n/a
9	FOXA1	chr11:46739688-46740197	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:46739568-46742670	HepG2	liver:	n/a	n/a
11	TAF1	chr11:46739676-46740240	HepG2	liver:	n/a	n/a
12	MXI1	chr11:46739656-46740994	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:46739668-46740255	HepG2	liver:	n/a	n/a
14	NR2F2	chr11:46739571-46741263	HepG2	liver:	n/a	n/a
15	CEBPD	chr11:46739660-46740239	HepG2	liver:	n/a	n/a
16	NR3C1	chr11:46739532-46740219	A549	lung:	n/a	chr11:46739745-46739758
17	FOXA2	chr11:46739640-46740254	HepG2	liver:	n/a	n/a
18	TEAD4	chr11:46739611-46741017	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:46739545-46758468	HepG2	liver:	n/a	n/a
20	ETS1	chr11:46739615-46740187	A549	lung:	n/a	chr11:46739893-46739907
21	EP300	chr11:46739564-46740360	A549	lung:	n/a	chr11:46739739-46739752 chr11:46739892-46739901 chr11:46740042-46740058
22	NR3C1	chr11:46739598-46740200	A549	lung:	n/a	chr11:46739745-46739758
23	MYC	chr11:46739676-46740253	HepG2	liver:	n/a	n/a
24	YY1	chr11:46739681-46740225	HepG2	liver:	n/a	n/a
25	MAZ	chr11:46739693-46740911	HepG2	liver:	n/a	n/a
26	RXRA	chr11:46739582-46740212	HepG2	liver:	n/a	n/a
27	MAX	chr11:46739543-46741963	HepG2	liver:	n/a	chr11:46741848-46741858
28	MAX	chr11:46739461-46741099	A549	lung:	n/a	n/a
29	HNF4A	chr11:46739632-46740227	HepG2	liver:	n/a	chr11:46739787-46739802 chr11:46739837-46739855 chr11:46739838-46739853 chr11:46739789-46739801
30	MBD4	chr11:46739639-46741057	HepG2	liver:	n/a	n/a
31	MYBL2	chr11:46739485-46741464	HepG2	liver:	n/a	n/a
32	MBD4	chr11:46739585-46741341	HepG2	liver:	n/a	n/a
33	HNF4G	chr11:46739626-46740267	HepG2	liver:	n/a	chr11:46739837-46739855 chr11:46739789-46739801
34	TBP	chr11:46739768-46740260	HepG2	liver:	n/a	n/a
35	FOSL2	chr11:46739599-46740192	A549	lung:	n/a	n/a
36	EP300	chr11:46739704-46740266	HepG2	liver:	n/a	chr11:46739739-46739752 chr11:46739892-46739901 chr11:46740042-46740058
37	BCL3	chr11:46739616-46740815	A549	lung:	n/a	chr11:46740140-46740149
38	MAX	chr11:46739568-46740196	A549	lung:	n/a	n/a
39	EP300	chr11:46739581-46740215	A549	lung:	n/a	chr11:46739739-46739752 chr11:46739892-46739901 chr11:46740042-46740058
40	HEY1	chr11:46739579-46742651	HepG2	liver:	n/a	n/a
41	EP300	chr11:46739534-46740309	HepG2	liver:	n/a	chr11:46739739-46739752 chr11:46739892-46739901 chr11:46740042-46740058
42	MYBL2	chr11:46739593-46741377	HepG2	liver:	n/a	n/a
43	HDAC2	chr11:46739669-46740957	HepG2	liver:	n/a	n/a
44	FOXA1	chr11:46739571-46740240	HepG2	liver:	n/a	n/a
45	TAF1	chr11:46739684-46740261	HepG2	liver:	n/a	n/a
46	ARID3A	chr11:46739747-46740958	HepG2	liver:	n/a	n/a
47	REST	chr11:46739575-46740285	A549	lung:	n/a	chr11:46740140-46740149 chr11:46740138-46740151
48	SP1	chr11:46739509-46741005	A549	lung:	n/a	chr11:46740539-46740553
49	FOXA2	chr11:46739464-46740434	HepG2	liver:	n/a	n/a
50	ELF1	chr11:46739702-46740259	HepG2	liver:	n/a	chr11:46739889-46739902

Variant related genes	Relation type
F2	TF binding region

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:57 , 50 per page) page: 1 2

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	chr11:46739400-46740200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr11:46739400-46740400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:46739400-46740400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:46739400-46740400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:46739400-46740400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr11:46739400-46741000	Enhancers	Fetal Intestine Large	intestine
11	chr11:46739400-46741000	Enhancers	Fetal Intestine Small	intestine
12	chr11:46739400-46741000	Enhancers	Stomach Mucosa	stomach
13	chr11:46739600-46740200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr11:46739600-46740200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:46739600-46740200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:46739600-46740200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:46739600-46740200	Enhancers	Colonic Mucosa	Colon
18	chr11:46739600-46740200	Enhancers	Lung	lung
19	chr11:46739600-46740200	Enhancers	HSMM	muscle
20	chr11:46739600-46740200	Enhancers	NHEK	skin
21	chr11:46739600-46740400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:46739600-46740400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr11:46739600-46740400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:46739600-46740400	Enhancers	Placenta	Placenta
25	chr11:46739600-46740400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:46739600-46740600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr11:46739600-46740600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:46739600-46740800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:46739600-46741000	Enhancers	Pancreas	Pancrea
30	chr11:46739600-46741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:46739800-46740200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:46739800-46740200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:46739800-46740200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr11:46739800-46740200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:46739800-46740200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr11:46739800-46740200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:46739800-46740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:46739800-46740200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:46739800-46740200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:46739800-46740200	Enhancers	Fetal Muscle Trunk	muscle
41	chr11:46739800-46740200	Enhancers	Dnd41	blood
42	chr11:46739800-46740400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:46739800-46740400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:46739800-46740600	Enhancers	Hela-S3	cervix
45	chr11:46739800-46740800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr11:46739800-46741000	Flanking Active TSS	A549	lung
47	chr11:46739800-46741400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:46739800-46742000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:46740000-46740200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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