Variant report

Variant	rs12283328
Chromosome Location	chr11:120170778-120170779
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	STAT1	chr11:120170397-120171056	Hela-S3	cervix:	n/a	chr11:120170737-120170749 chr11:120170818-120170829 chr11:120170820-120170829 chr11:120170819-120170828
2	CTCF	chr11:120170735-120171014	Medullo	brain:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
3	CTCF	chr11:120170719-120170992	NHEK	skin:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
4	RAD21	chr11:120170615-120171053	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr11:120170760-120170910	HPF	lung:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
6	RAD21	chr11:120170458-120171212	MCF-7	breast:	n/a	n/a
7	CTCF	chr11:120170720-120170976	GM12892	blood:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
8	RAD21	chr11:120170568-120171137	ECC-1	luminal epithelium:	n/a	n/a
9	ZNF143	chr11:120170725-120171048	K562	blood:	n/a	chr11:120170747-120170765
10	ELF1	chr11:120170689-120170928	HepG2	liver:	n/a	n/a
11	CTCF	chr11:120170582-120171078	A549	lung:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
12	CTCF	chr11:120170655-120171079	GM12878	blood:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
13	SMC3	chr11:120170674-120171076	HepG2	liver:	n/a	n/a
14	RAD21	chr11:120170698-120170937	K562	blood:	n/a	n/a
15	RAD21	chr11:120170647-120171060	GM12878	blood:	n/a	n/a
16	CTCF	chr11:120170684-120171046	ECC-1	luminal epithelium:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
17	CTCF	chr11:120170646-120171047	MCF-7	breast:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
18	CTCF	chr11:120170772-120170956	MCF-7	breast:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
19	CTCF	chr11:120170613-120171136	MCF-7	breast:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
20	CTCF	chr11:120170747-120170994	LNCaP	prostate:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
21	STAT3	chr11:120170679-120171013	Hela-S3	cervix:	n/a	chr11:120170818-120170829 chr11:120170737-120170749 chr11:120170820-120170829 chr11:120170819-120170828
22	BRCA1	chr11:120170715-120170908	HepG2	liver:	n/a	n/a
23	CTCF	chr11:120170760-120170910	HCM	heart:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
24	RAD21	chr11:120170702-120171022	K562	blood:	n/a	n/a
25	CTCF	chr11:120170760-120170910	HAc	cerebellar:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
26	RAD21	chr11:120170646-120171059	HepG2	liver:	n/a	n/a
27	CTCF	chr11:120170684-120170941	GM12891	blood:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
28	RCOR1	chr11:120170698-120170994	K562	blood:	n/a	n/a
29	RAD21	chr11:120170658-120171035	HepG2	liver:	n/a	n/a
30	CTCF	chr11:120170726-120170994	Gliobla	brain:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
31	CTCF	chr11:120170760-120170910	GM12865	blood:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
32	CTCF	chr11:120170760-120170910	HFF-Myc	foreskin:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
33	CTCF	chr11:120170759-120170991	Pancreas_OC	pancreas:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
34	CTCF	chr11:120170754-120170955	Lung_OC	lung:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
35	SMC3	chr11:120170588-120171056	GM12878	blood:	n/a	n/a
36	CTCF	chr11:120170756-120170966	Fibrobl	skin:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
37	CTCF	chr11:120170737-120170997	GM12878	blood:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
38	STAT3	chr11:120170628-120171036	MCF10A-Er-Src	breast:	n/a	chr11:120170818-120170829 chr11:120170737-120170749 chr11:120170820-120170829 chr11:120170819-120170828
39	CTCF	chr11:120170777-120170968	GM10266	blood:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
40	EBF1	chr11:120170694-120170925	GM12878	blood:	n/a	n/a
41	RAD21	chr11:120170606-120171066	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr11:120170760-120170910	WI-38	lung:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
43	CTCF	chr11:120170608-120171031	HepG2	liver:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
44	CTCF	chr11:120170577-120171215	HCT-116	colon:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
45	CTCF	chr11:120170735-120170978	A549	lung:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
46	RAD21	chr11:120170566-120171069	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr11:120170579-120171000	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr11:120170665-120171008	A549	lung:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
49	CTCF	chr11:120170740-120170890	GM12801	blood:	n/a	chr11:120170860-120170878 chr11:120170855-120170876
50	ZNF143	chr11:120170638-120171011	H1-hESC	embryonic stem cell:	n/a	chr11:120170747-120170765

No.	Distal block	Cell Line	Cell type
1	chr11:119992154..119994463-chr11:120170248..120173038,2	MCF-7	breast:
2	chr11:120166386..120168824-chr11:120169274..120170936,2	K562	blood:
3	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
4	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
5	chr11:120149912..120152911-chr11:120168871..120171487,3	K562	blood:
6	chr11:120104850..120106373-chr11:120170312..120171433,18	MCF-7	breast:
7	chr11:120099751..120100618-chr11:120170383..120171309,2	K562	blood:
8	chr11:120105385..120106108-chr11:120170023..120170943,3	MCF-7	breast:
9	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
10	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
11	chr11:120111108..120111706-chr11:120170386..120171294,4	K562	blood:
12	chr11:120105076..120106736-chr11:120169805..120171450,18	K562	blood:
13	chr11:120042758..120043591-chr11:120170404..120171318,5	K562	blood:
14	chr11:120129227..120130037-chr11:120170286..120170874,2	MCF-7	breast:

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11217789	1.00[AMR][1000 genomes]
rs11823323	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120167800-120170800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:120168800-120170800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr11:120169400-120170800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:120169600-120178200	Enhancers	Placenta	Placenta
5	chr11:120169800-120171200	Enhancers	NHEK	skin
6	chr11:120170000-120170800	Enhancers	HMEC	breast
7	chr11:120170000-120171200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:120170200-120170800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr11:120170200-120170800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:120170200-120170800	Enhancers	Pancreas	Pancrea
11	chr11:120170200-120170800	Enhancers	GM12878-XiMat	blood
12	chr11:120170200-120170800	Enhancers	Hela-S3	cervix
13	chr11:120170200-120171000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:120170200-120171200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:120170200-120171200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr11:120170200-120171400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:120170200-120171600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:120170400-120170800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:120170400-120170800	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr11:120170400-120170800	Enhancers	Esophagus	oesophagus
21	chr11:120170400-120170800	Enhancers	Fetal Intestine Large	intestine
22	chr11:120170400-120170800	Enhancers	Fetal Intestine Small	intestine
23	chr11:120170400-120170800	Enhancers	A549	lung
24	chr11:120170400-120171000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:120170400-120171200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:120170600-120170800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:120170600-120170800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:120170600-120170800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:120170600-120170800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:120170600-120170800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:120170600-120170800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:120170600-120170800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:120170600-120170800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:120170600-120170800	Enhancers	Colonic Mucosa	Colon
35	chr11:120170600-120170800	Enhancers	Duodenum Mucosa	Duodenum
36	chr11:120170600-120170800	Enhancers	Gastric	stomach
37	chr11:120170600-120170800	Enhancers	Left Ventricle	heart
38	chr11:120170600-120170800	Enhancers	Lung	lung
39	chr11:120170600-120170800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
40	chr11:120170600-120170800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr11:120170600-120170800	Enhancers	Small Intestine	intestine
42	chr11:120170600-120170800	Enhancers	Stomach Mucosa	stomach
43	chr11:120170600-120171000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:120170600-120171200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:120170600-120171200	Enhancers	Liver	Liver
46	chr11:120170600-120171400	Enhancers	Aorta	Aorta

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