Variant report

Variant	rs11039128
Chromosome Location	chr11:47226383-47226384
allele	C/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	E2F4	chr11:47226261-47226470	MCF10A-Er-Src	breast:	n/a	n/a
2	USF2	chr11:47226170-47226449	Hela-S3	cervix:	n/a	chr11:47226316-47226327
3	MYC	chr11:47226145-47226492	MCF10A-Er-Src	breast:	n/a	chr11:47226313-47226322
4	STAT3	chr11:47226226-47226493	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:47226063-47226525	MCF10A-Er-Src	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
6	JUND	chr11:47226039-47226479	Hela-S3	cervix:	n/a	chr11:47226314-47226323 chr11:47226313-47226322 chr11:47226312-47226323
7	NFIC	chr11:47225939-47226633	SK-N-SH	brain:	n/a	n/a
8	USF1	chr11:47226198-47226426	SK-N-SH_RA	brain:	n/a	n/a
9	FOXA1	chr11:47226163-47226452	T-47D	breast:	n/a	n/a
10	MAX	chr11:47226165-47226439	Hela-S3	cervix:	n/a	chr11:47226313-47226322
11	JUND	chr11:47226175-47226481	HepG2	liver:	n/a	chr11:47226314-47226323 chr11:47226313-47226322 chr11:47226312-47226323
12	GATA3	chr11:47225721-47226649	MCF-7	breast:	n/a	chr11:47226059-47226076 chr11:47226068-47226077
13	USF2	chr11:47226200-47226450	H1-hESC	embryonic stem cell:	n/a	chr11:47226316-47226327
14	USF1	chr11:47226228-47226454	SK-N-SH_RA	brain:	n/a	n/a
15	USF1	chr11:47226130-47226478	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr11:47226216-47226461	H1-hESC	embryonic stem cell:	n/a	chr11:47226313-47226322
17	FOS	chr11:47226122-47226525	MCF10A-Er-Src	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
18	USF1	chr11:47226143-47226510	SK-N-SH	brain:	n/a	n/a
19	FOSL2	chr11:47226103-47226455	SK-N-SH	brain:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
20	CTCF	chr11:47226280-47226430	HCFaa	heart:	n/a	n/a
21	JUND	chr11:47226200-47226478	H1-hESC	embryonic stem cell:	n/a	chr11:47226314-47226323 chr11:47226313-47226322 chr11:47226312-47226323
22	CTCF	chr11:47226300-47226450	MCF-7	breast:	n/a	n/a
23	MYC	chr11:47226140-47226500	MCF10A-Er-Src	breast:	n/a	chr11:47226313-47226322
24	TEAD4	chr11:47225823-47226525	K562	blood:	n/a	n/a
25	FOS	chr11:47226063-47226548	MCF10A-Er-Src	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
26	FOSL2	chr11:47226166-47226628	MCF-7	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
27	FOSL2	chr11:47226007-47226638	SK-N-SH	brain:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
28	JUND	chr11:47226107-47226461	K562	blood:	n/a	chr11:47226314-47226323 chr11:47226313-47226322 chr11:47226312-47226323
29	JUND	chr11:47226060-47226688	SK-N-SH	brain:	n/a	chr11:47226314-47226323 chr11:47226313-47226322 chr11:47226312-47226323
30	STAT3	chr11:47226159-47226476	MCF10A-Er-Src	breast:	n/a	n/a
31	GATA3	chr11:47225852-47226674	SK-N-SH	brain:	n/a	chr11:47226059-47226076 chr11:47226068-47226077
32	FOS	chr11:47226073-47226506	MCF10A-Er-Src	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
33	USF1	chr11:47226068-47226423	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr11:47226237-47226568	IMR90	lung:	n/a	n/a
35	FOSL2	chr11:47226095-47226437	MCF-7	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
36	GATA3	chr11:47225687-47226588	MCF-7	breast:	n/a	chr11:47226059-47226076 chr11:47226068-47226077
37	GATA1	chr11:47225770-47226697	K562	blood:	n/a	chr11:47226059-47226076 chr11:47226068-47226077

No.	Distal block	Cell Line	Cell type
1	chr11:47223065..47227984-chr11:47233675..47238356,6	MCF-7	breast:
2	chr11:47205640..47208812-chr11:47225906..47229370,3	MCF-7	breast:
3	chr11:47211780..47213676-chr11:47225698..47227391,2	MCF-7	breast:
4	chr11:47203683..47208496-chr11:47223862..47228000,5	MCF-7	breast:
5	chr11:47219819..47221860-chr11:47224771..47227015,2	MCF-7	breast:
6	chr11:47226100..47227743-chr11:47235838..47237503,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL772P	TF binding region
ENSG00000165912	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000243802	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11039045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11039099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11039104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11039169	1.00[AFR][1000 genomes]
rs11039179	1.00[AFR][1000 genomes]
rs11039180	1.00[AFR][1000 genomes]
rs11039214	1.00[AFR][1000 genomes]
rs12226522	1.00[AFR][1000 genomes]
rs12226869	1.00[AFR][1000 genomes]
rs4647752	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7125350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7938933	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47224400-47230200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:47225600-47226800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:47225600-47227200	Enhancers	HMEC	breast
4	chr11:47225600-47227200	Enhancers	Osteobl	bone
5	chr11:47225800-47226400	Enhancers	Stomach Mucosa	stomach
6	chr11:47225800-47226600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:47225800-47226600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:47225800-47226600	Enhancers	Stomach Smooth Muscle	stomach
9	chr11:47225800-47226600	Enhancers	A549	lung
10	chr11:47225800-47226600	Enhancers	NHDF-Ad	bronchial
11	chr11:47225800-47226800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:47225800-47226800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:47225800-47226800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:47225800-47226800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:47225800-47227000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:47225800-47227000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:47225800-47227200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:47225800-47227200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:47225800-47227200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:47226000-47226400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:47226000-47226400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr11:47226000-47226400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:47226000-47226400	Enhancers	HSMM	muscle
24	chr11:47226000-47226600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:47226000-47226600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:47226000-47226600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:47226000-47226600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:47226000-47226600	Enhancers	Adipose Nuclei	Adipose
29	chr11:47226000-47226600	Enhancers	HepG2	liver
30	chr11:47226000-47226600	Enhancers	NH-A	brain
31	chr11:47226000-47226600	Enhancers	NHLF	lung
32	chr11:47226000-47227000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:47226000-47227000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:47226200-47226400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:47226200-47226400	Enhancers	Hela-S3	cervix
36	chr11:47226200-47226600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:47226200-47226600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:47226200-47226600	Flanking Active TSS	NHEK	skin
39	chr11:47226200-47226800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:47226200-47226800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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