Variant report

Variant	rs11828150
Chromosome Location	chr11:62689433-62689434
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	MYC	chr11:62689159-62689751	MCF-7	breast:	n/a	chr11:62689373-62689382
2	USF1	chr11:62689271-62689478	K562	blood:	n/a	chr11:62689371-62689384 chr11:62689415-62689431
3	ZBTB7A	chr11:62688467-62689621	ECC-1	luminal epithelium:	n/a	n/a
4	USF2	chr11:62689271-62689723	Hela-S3	cervix:	n/a	chr11:62689371-62689384 chr11:62689415-62689431
5	BHLHE40	chr11:62689174-62689818	K562	blood:	n/a	chr11:62689371-62689384 chr11:62689415-62689431
6	GTF2F1	chr11:62689307-62689589	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr11:62688589-62689679	ECC-1	luminal epithelium:	n/a	chr11:62689242-62689252 chr11:62688768-62688775
8	MYC	chr11:62689367-62689637	MCF10A-Er-Src	breast:	n/a	chr11:62689373-62689382
9	MAX	chr11:62689425-62689796	K562	blood:	n/a	n/a
10	BRCA1	chr11:62689271-62689476	Hela-S3	cervix:	n/a	n/a
11	USF1	chr11:62689131-62689684	ECC-1	luminal epithelium:	n/a	chr11:62689371-62689384 chr11:62689415-62689431
12	POLR2A	chr11:62688605-62689648	SK-N-MC	brain:	n/a	n/a
13	MAX	chr11:62688653-62689911	ECC-1	luminal epithelium:	n/a	chr11:62689154-62689163 chr11:62689373-62689382
14	FOS	chr11:62689305-62689551	MCF10A-Er-Src	breast:	n/a	n/a
15	SMC3	chr11:62689272-62689630	Hela-S3	cervix:	n/a	n/a
16	MAX	chr11:62689209-62689711	Hela-S3	cervix:	n/a	chr11:62689373-62689382
17	BHLHE40	chr11:62689283-62689522	A549	lung:	n/a	chr11:62689371-62689384 chr11:62689415-62689431
18	MAX	chr11:62689080-62689721	Hela-S3	cervix:	n/a	chr11:62689154-62689163 chr11:62689373-62689382
19	EGR1	chr11:62689086-62689471	K562	blood:	n/a	chr11:62689277-62689290 chr11:62689278-62689289 chr11:62689278-62689288 chr11:62689277-62689290 chr11:62689276-62689290 chr11:62689272-62689294 chr11:62689288-62689303
20	CEBPB	chr11:62689230-62689853	Hela-S3	cervix:	n/a	chr11:62689692-62689705 chr11:62689692-62689703
21	EGR1	chr11:62688916-62689476	ECC-1	luminal epithelium:	n/a	chr11:62689277-62689290 chr11:62689278-62689289 chr11:62689278-62689288 chr11:62689277-62689290 chr11:62689276-62689290 chr11:62689272-62689294 chr11:62689288-62689303
22	TFAP2C	chr11:62688837-62689914	Hela-S3	cervix:	n/a	n/a
23	TFAP2A	chr11:62688894-62689903	Hela-S3	cervix:	n/a	chr11:62689422-62689433 chr11:62689422-62689433 chr11:62689422-62689433 chr11:62689422-62689433 chr11:62689422-62689434 chr11:62689423-62689431 chr11:62689423-62689431 chr11:62689423-62689431
24	EGR1	chr11:62689005-62689588	ECC-1	luminal epithelium:	n/a	chr11:62689277-62689290 chr11:62689278-62689289 chr11:62689278-62689288 chr11:62689277-62689290 chr11:62689276-62689290 chr11:62689272-62689294 chr11:62689288-62689303
25	MXI1	chr11:62689354-62689522	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr11:62689327-62689610	Hela-S3	cervix:	n/a	chr11:62689373-62689382
27	FOS	chr11:62689317-62689479	MCF10A-Er-Src	breast:	n/a	n/a
28	USF1	chr11:62689141-62689614	ECC-1	luminal epithelium:	n/a	chr11:62689371-62689384 chr11:62689415-62689431
29	BHLHE40	chr11:62689199-62689569	HepG2	liver:	n/a	chr11:62689371-62689384 chr11:62689415-62689431
30	MAX	chr11:62689004-62689916	ECC-1	luminal epithelium:	n/a	chr11:62689154-62689163 chr11:62689373-62689382
31	RCOR1	chr11:62689270-62689837	Hela-S3	cervix:	n/a	n/a
32	FOS	chr11:62689306-62689501	MCF10A-Er-Src	breast:	n/a	n/a
33	NFIC	chr11:62688595-62689758	ECC-1	luminal epithelium:	n/a	n/a
34	NFIC	chr11:62688528-62689769	ECC-1	luminal epithelium:	n/a	n/a
35	ZBTB7A	chr11:62688414-62689762	ECC-1	luminal epithelium:	n/a	n/a
36	MAX	chr11:62688712-62689890	MCF-7	breast:	n/a	chr11:62689154-62689163 chr11:62689373-62689382
37	MYC	chr11:62689296-62689834	MCF10A-Er-Src	breast:	n/a	chr11:62689373-62689382

No.	Distal block	Cell Line	Cell type
1	chr11:62684211..62686815-chr11:62688182..62691339,3	K562	blood:
2	chr11:62654873..62656634-chr11:62689160..62691851,2	MCF-7	breast:
3	chr11:62670875..62680186-chr11:62684644..62693105,18	MCF-7	breast:
4	chr11:62647864..62650680-chr11:62689294..62693032,3	MCF-7	breast:
5	chr11:62682515..62686496-chr11:62687145..62690547,5	K562	blood:
6	chr11:62606809..62611421-chr11:62687018..62693613,7	MCF-7	breast:
7	chr11:62676072..62679546-chr11:62682200..62691147,12	MCF-7	breast:
8	chr11:62689350..62691108-chr11:62741529..62743769,2	K562	blood:
9	chr11:62605044..62611833-chr11:62683227..62691981,12	MCF-7	breast:
10	chr11:62687026..62689620-chr11:62751524..62753744,2	K562	blood:

Variant related genes	Relation type
CHRM1	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000168539	Chromatin interaction
ENSG00000257002	Chromatin interaction
ENSG00000197901	Chromatin interaction
ENSG00000168003	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1004836	1.00[EUR][1000 genomes]
rs11231293	1.00[EUR][1000 genomes]
rs11568630	1.00[EUR][1000 genomes]
rs11822063	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11822228	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11824018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293966	1.00[EUR][1000 genomes]
rs12295679	1.00[EUR][1000 genomes]
rs3793961	1.00[EUR][1000 genomes]
rs45438191	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases
4	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62686600-62689600	Enhancers	Fetal Heart	heart
2	chr11:62687600-62690600	Weak transcription	Right Atrium	heart
3	chr11:62687600-62691000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr11:62687800-62690800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:62688200-62690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:62688400-62689600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:62688400-62689600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr11:62688400-62689800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:62688400-62690000	Flanking Active TSS	Hela-S3	cervix
10	chr11:62688400-62690400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr11:62688400-62690600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr11:62688400-62691200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr11:62688600-62689600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:62688600-62689600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
15	chr11:62688600-62689800	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr11:62688600-62689800	Bivalent Enhancer	Fetal Lung	lung
17	chr11:62688600-62689800	Enhancers	Gastric	stomach
18	chr11:62688600-62690000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
19	chr11:62688600-62690400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr11:62688800-62689600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:62688800-62689600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:62688800-62689600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:62688800-62689600	Bivalent Enhancer	Fetal Thymus	thymus
24	chr11:62688800-62689600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr11:62688800-62689600	Bivalent Enhancer	Osteobl	bone
26	chr11:62688800-62690200	Bivalent Enhancer	NHEK	skin
27	chr11:62688800-62690800	Bivalent Enhancer	Right Ventricle	heart
28	chr11:62688800-62691000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr11:62688800-62691000	Bivalent Enhancer	HMEC	breast
30	chr11:62688800-62691600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:62689000-62689600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:62689000-62689800	Bivalent Enhancer	Brain Substantia Nigra	brain
33	chr11:62689000-62689800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:62689000-62690200	Bivalent Enhancer	Brain Hippocampus Middle	brain
35	chr11:62689000-62691400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chr11:62689200-62689600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr11:62689200-62689600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:62689200-62689600	Enhancers	Fetal Brain Male	brain
39	chr11:62689200-62689800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
40	chr11:62689200-62689800	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr11:62689200-62689800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
42	chr11:62689200-62689800	Bivalent Enhancer	Esophagus	oesophagus
43	chr11:62689200-62689800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr11:62689200-62690000	Enhancers	Brain Angular Gyrus	brain
45	chr11:62689200-62690000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr11:62689200-62690000	Enhancers	Left Ventricle	heart
47	chr11:62689200-62690000	Enhancers	Pancreas	Pancrea
48	chr11:62689200-62690800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr11:62689200-62691000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:62689200-62691200	Bivalent Enhancer	Fetal Stomach	stomach

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