Variant report

Variant	rs547761417
Chromosome Location	chr11:46739971-46739972
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	SP1	chr11:46739576-46740303	A549	lung:	n/a	n/a
2	ELF1	chr11:46739619-46740278	HepG2	liver:	n/a	chr11:46739889-46739902
3	CREB1	chr11:46739562-46740150	A549	lung:	n/a	n/a
4	TCF12	chr11:46739345-46741076	A549	lung:	n/a	n/a
5	HEY1	chr11:46739620-46740169	HepG2	liver:	n/a	n/a
6	FOXA2	chr11:46739570-46740193	A549	lung:	n/a	n/a
7	SP2	chr11:46739697-46740171	HepG2	liver:	n/a	n/a
8	SMC3	chr11:46739671-46740871	HepG2	liver:	n/a	n/a
9	FOSL2	chr11:46739628-46739999	A549	lung:	n/a	n/a
10	MAX	chr11:46739662-46740111	HepG2	liver:	n/a	n/a
11	ELF1	chr11:46739695-46740102	K562	blood:	n/a	chr11:46739889-46739902
12	NR2F2	chr11:46739682-46740176	MCF-7	breast:	n/a	n/a
13	RAD21	chr11:46739739-46740116	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:46739634-46740021	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:46739575-46740302	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:46739684-46740294	HepG2	liver:	n/a	n/a
17	TCF12	chr11:46739659-46740210	HepG2	liver:	n/a	n/a
18	FOXA1	chr11:46739688-46740197	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:46739568-46742670	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:46739790-46740161	A549	lung:	n/a	n/a
21	HNF4G	chr11:46739535-46740084	HepG2	liver:	n/a	chr11:46739837-46739855 chr11:46739789-46739801
22	TAF1	chr11:46739676-46740240	HepG2	liver:	n/a	n/a
23	MXI1	chr11:46739656-46740994	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:46739668-46740255	HepG2	liver:	n/a	n/a
25	NR2F2	chr11:46739571-46741263	HepG2	liver:	n/a	n/a
26	CEBPD	chr11:46739660-46740239	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr11:46739711-46740075	HepG2	liver:	n/a	n/a
28	NR3C1	chr11:46739532-46740219	A549	lung:	n/a	chr11:46739745-46739758
29	FOXA2	chr11:46739640-46740254	HepG2	liver:	n/a	n/a
30	TEAD4	chr11:46739611-46741017	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:46739545-46758468	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:46739729-46740108	Hela-S3	cervix:	n/a	n/a
33	ETS1	chr11:46739615-46740187	A549	lung:	n/a	chr11:46739893-46739907
34	EP300	chr11:46739564-46740360	A549	lung:	n/a	chr11:46739739-46739752 chr11:46739892-46739901 chr11:46740042-46740058
35	NR3C1	chr11:46739598-46740200	A549	lung:	n/a	chr11:46739745-46739758
36	MYC	chr11:46739676-46740253	HepG2	liver:	n/a	n/a
37	FOXA1	chr11:46739579-46740143	A549	lung:	n/a	n/a
38	YY1	chr11:46739681-46740225	HepG2	liver:	n/a	n/a
39	MAZ	chr11:46739693-46740911	HepG2	liver:	n/a	n/a
40	ELF1	chr11:46739670-46740165	MCF-7	breast:	n/a	chr11:46739889-46739902
41	RAD21	chr11:46739673-46740169	HepG2	liver:	n/a	n/a
42	CHD2	chr11:46739731-46740126	HepG2	liver:	n/a	n/a
43	RXRA	chr11:46739582-46740212	HepG2	liver:	n/a	n/a
44	ELF1	chr11:46739672-46740102	A549	lung:	n/a	chr11:46739889-46739902
45	MAX	chr11:46739543-46741963	HepG2	liver:	n/a	chr11:46741848-46741858
46	ELF1	chr11:46739716-46740096	A549	lung:	n/a	chr11:46739889-46739902
47	MAX	chr11:46739461-46741099	A549	lung:	n/a	n/a
48	HNF4A	chr11:46739632-46740227	HepG2	liver:	n/a	chr11:46739787-46739802 chr11:46739837-46739855 chr11:46739838-46739853 chr11:46739789-46739801
49	HDAC2	chr11:46739666-46740135	MCF-7	breast:	n/a	n/a
50	RFX5	chr11:46739733-46740124	HepG2	liver:	n/a	n/a

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:61 , 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	chr11:46729200-46740000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:46729600-46740000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:46729600-46740000	Weak transcription	Right Ventricle	heart
6	chr11:46729600-46740600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:46730000-46740000	Weak transcription	Gastric	stomach
8	chr11:46730200-46740600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:46736600-46740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:46739200-46740000	Enhancers	Liver	Liver
11	chr11:46739400-46740200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:46739400-46740400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:46739400-46740400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr11:46739400-46740400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:46739400-46740400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr11:46739400-46741000	Enhancers	Fetal Intestine Large	intestine
17	chr11:46739400-46741000	Enhancers	Fetal Intestine Small	intestine
18	chr11:46739400-46741000	Enhancers	Stomach Mucosa	stomach
19	chr11:46739600-46740000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:46739600-46740000	Enhancers	Adipose Nuclei	Adipose
21	chr11:46739600-46740000	Enhancers	HUVEC	blood vessel
22	chr11:46739600-46740200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr11:46739600-46740200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:46739600-46740200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:46739600-46740200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:46739600-46740200	Enhancers	Colonic Mucosa	Colon
27	chr11:46739600-46740200	Enhancers	Lung	lung
28	chr11:46739600-46740200	Enhancers	HSMM	muscle
29	chr11:46739600-46740200	Enhancers	NHEK	skin
30	chr11:46739600-46740400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:46739600-46740400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr11:46739600-46740400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:46739600-46740400	Enhancers	Placenta	Placenta
34	chr11:46739600-46740400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:46739600-46740600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:46739600-46740600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:46739600-46740800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:46739600-46741000	Enhancers	Pancreas	Pancrea
39	chr11:46739600-46741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:46739800-46740000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:46739800-46740000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:46739800-46740000	Enhancers	HepG2	liver
43	chr11:46739800-46740200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:46739800-46740200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:46739800-46740200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:46739800-46740200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:46739800-46740200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:46739800-46740200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr11:46739800-46740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:46739800-46740200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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