Variant report

Variant	rs73501892
Chromosome Location	chr11:77706132-77706133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:532)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr11:77705441-77706282	ECC-1	luminal epithelium:	n/a	n/a
2	USF1	chr11:77705446-77706328	A549	lung:	n/a	n/a
3	CREB1	chr11:77705537-77706243	A549	lung:	n/a	n/a
4	BRCA1	chr11:77705454-77706319	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr11:77705969-77706256	GM12878	blood:	n/a	n/a
6	SPI1	chr11:77705676-77706285	GM12891	blood:	n/a	chr11:77706261-77706274
7	POLR2A	chr11:77705535-77706284	A549	lung:	n/a	n/a
8	TCF12	chr11:77705470-77706378	A549	lung:	n/a	n/a
9	SP2	chr11:77705709-77706195	H1-hESC	embryonic stem cell:	n/a	chr11:77705914-77705929
10	MAX	chr11:77705412-77706517	ECC-1	luminal epithelium:	n/a	n/a
11	NFIC	chr11:77705465-77706506	HepG2	liver:	n/a	n/a
12	BHLHE40	chr11:77705510-77706323	K562	blood:	n/a	n/a
13	SRF	chr11:77705361-77706591	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:77706034-77706421	GM12892	blood:	n/a	n/a
15	SP2	chr11:77705493-77706340	HepG2	liver:	n/a	chr11:77705914-77705929
16	MYC	chr11:77705327-77706376	K562	blood:	n/a	n/a
17	YY1	chr11:77705355-77706370	GM12878	blood:	n/a	n/a
18	HNF4A	chr11:77705612-77706200	HepG2	liver:	n/a	chr11:77706056-77706071 chr11:77706058-77706070 chr11:77706053-77706075 chr11:77706055-77706073 chr11:77706057-77706071
19	TEAD4	chr11:77705277-77706287	K562	blood:	n/a	n/a
20	TBP	chr11:77705508-77706423	K562	blood:	n/a	n/a
21	MYC	chr11:77705274-77706550	NB4	blood:	n/a	n/a
22	CTCF	chr11:77706080-77706230	AG04449	skin:	n/a	n/a
23	MXI1	chr11:77705359-77706301	K562	blood:	n/a	n/a
24	HNF4G	chr11:77705617-77706229	HepG2	liver:	n/a	chr11:77706058-77706070 chr11:77706053-77706075 chr11:77706055-77706073 chr11:77706057-77706071
25	TAF1	chr11:77705460-77706276	H1-hESC	embryonic stem cell:	n/a	n/a
26	CBX3	chr11:77705936-77706426	K562	blood:	n/a	n/a
27	MAX	chr11:77705391-77706426	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:77705390-77706519	GM12892	blood:	n/a	n/a
29	TAF1	chr11:77705481-77706420	GM12878	blood:	n/a	n/a
30	YY1	chr11:77705441-77706255	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:77705259-77706773	SK-N-MC	brain:	n/a	n/a
32	EP300	chr11:77705478-77706462	K562	blood:	n/a	n/a
33	REST	chr11:77705964-77706536	A549	lung:	n/a	n/a
34	POLR2A	chr11:77705506-77706415	GM12891	blood:	n/a	n/a
35	TBP	chr11:77705438-77706415	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOXA2	chr11:77705437-77706167	A549	lung:	n/a	n/a
37	MYC	chr11:77705423-77706366	Hela-S3	cervix:	n/a	n/a
38	TAF1	chr11:77705991-77706386	GM12891	blood:	n/a	n/a
39	POLR2A	chr11:77705475-77706432	GM12878	blood:	n/a	n/a
40	MXI1	chr11:77704655-77706808	SK-N-SH	brain:	n/a	n/a
41	MYBL2	chr11:77705314-77706377	HepG2	liver:	n/a	n/a
42	SPI1	chr11:77705650-77706286	GM12891	blood:	n/a	chr11:77706261-77706274
43	HMGN3	chr11:77705592-77706325	K562	blood:	n/a	n/a
44	POLR2A	chr11:77704851-77706545	H1-hESC	embryonic stem cell:	n/a	n/a
45	BHLHE40	chr11:77705526-77706384	GM12878	blood:	n/a	n/a
46	PML	chr11:77705314-77706371	K562	blood:	n/a	n/a
47	POLR2A	chr11:77706025-77706265	HepG2	liver:	n/a	n/a
48	TEAD4	chr11:77705271-77706516	K562	blood:	n/a	n/a
49	PBX3	chr11:77705437-77706327	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr11:77705169-77706667	Hela-S3	cervix:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:77705805..77706493-chr5:137089833..137090492,2	Hela-S3	cervix:
2	chr11:77705775..77706496-chr16:89752783..89753435,2	Hela-S3	cervix:
3	chr11:77530642..77533546-chr11:77704642..77706251,3	K562	blood:
4	chr11:77529037..77533619-chr11:77704156..77707997,11	MCF-7	breast:
5	chr11:77531648..77532301-chr11:77705645..77706474,2	MCF-7	breast:
6	chr11:77530218..77533723-chr11:77703658..77708132,10	MCF-7	breast:
7	chr11:77531692..77532289-chr11:77706058..77706572,3	MCF-7	breast:
8	chr11:77705810..77706354-chr6:27106551..27107126,2	Hela-S3	cervix:
9	chr11:77530309..77533546-chr11:77704751..77707196,4	K562	blood:
10	chr11:77705906..77708004-chr11:77761310..77764108,2	K562	blood:
11	chr11:77705754..77707357-chr11:77726216..77728682,3	K562	blood:
12	chr11:77704698..77706295-chr11:78127503..78129083,2	K562	blood:

No data

Variant related genes	Relation type
INTS4	TF binding region
ENSG00000198339	Chromatin interaction
ENSG00000087884	Chromatin interaction
ENSG00000260259	Chromatin interaction
ENSG00000254829	Chromatin interaction
ENSG00000048649	Chromatin interaction
ENSG00000177733	Chromatin interaction
ENSG00000185324	Chromatin interaction
ENSG00000033327	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11237399	1.00[AMR][1000 genomes]
rs60704733	1.00[AMR][1000 genomes]
rs73493813	1.00[AMR][1000 genomes]
rs73493836	1.00[AMR][1000 genomes]
rs73493884	1.00[AMR][1000 genomes]
rs73495954	1.00[AMR][1000 genomes]
rs73499843	1.00[AMR][1000 genomes]
rs73501867	1.00[AMR][1000 genomes]
rs73501887	1.00[AMR][1000 genomes]
rs73503564	1.00[AMR][1000 genomes]
rs73503567	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77704200-77706200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:77704200-77706600	Active TSS	HSMMtube	muscle
3	chr11:77704400-77706200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:77704400-77706200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:77704400-77706200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:77704400-77706200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:77704400-77706200	Active TSS	NHLF	lung
8	chr11:77704400-77706400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:77704600-77706200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:77704600-77706200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:77704600-77706200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:77704600-77706200	Active TSS	K562	blood
13	chr11:77704600-77706400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:77704600-77706600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:77704800-77706200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:77704800-77706200	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr11:77704800-77706200	Active TSS	A549	lung
18	chr11:77704800-77706400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:77704800-77706400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:77704800-77706400	Active TSS	Lung	lung
21	chr11:77704800-77706600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:77704800-77706600	Active TSS	Fetal Muscle Trunk	muscle
23	chr11:77704800-77706600	Active TSS	Right Atrium	heart
24	chr11:77704800-77706600	Active TSS	Right Ventricle	heart
25	chr11:77705000-77706200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:77705000-77706200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:77705000-77706200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:77705000-77706200	Active TSS	Muscle Satellite Cultured Cells	--
29	chr11:77705000-77706200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:77705000-77706200	Active TSS	Fetal Lung	lung
31	chr11:77705000-77706200	Active TSS	Thymus	Thymus
32	chr11:77705000-77706200	Active TSS	GM12878-XiMat	blood
33	chr11:77705000-77706200	Active TSS	HMEC	breast
34	chr11:77705000-77706400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:77705000-77706400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:77705000-77706400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:77705000-77706400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:77705000-77706400	Active TSS	Aorta	Aorta
39	chr11:77705000-77706400	Active TSS	Gastric	stomach
40	chr11:77705000-77706400	Active TSS	Ovary	ovary
41	chr11:77705000-77706600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:77705200-77706200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:77705200-77706200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:77705200-77706200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:77705200-77706200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:77705200-77706200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:77705200-77706200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:77705200-77706200	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:77705200-77706200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr11:77705200-77706200	Active TSS	Cortex derived primary cultured neurospheres	brain

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