Variant report

Variant	rs543006260
Chromosome Location	chr11:120080946-120080947
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	POLR2A	chr11:120080368-120083375	IMR90	lung:	n/a	n/a
2	MAZ	chr11:120080646-120082607	IMR90	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
3	MXI1	chr11:120080275-120082746	IMR90	lung:	n/a	chr11:120081821-120081830
4	MYC	chr11:120080812-120082264	MCF10A-Er-Src	breast:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
5	ZNF384	chr11:120080788-120081893	K562	blood:	n/a	n/a
6	MAX	chr11:120080645-120082378	Hela-S3	cervix:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
7	MAX	chr11:120080447-120082622	NB4	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
8	MXI1	chr11:120080653-120082910	SK-N-SH	brain:	n/a	chr11:120081821-120081830
9	CTBP2	chr11:120080927-120082755	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:120080945-120080995	SKMC	muscle:	n/a
2	chr11:120080945-120080995	Caco-2	colon:	n/a
3	chr11:120080945-120080995	PFSK-1	brain:	n/a
4	chr11:120080945-120080995	Hela-S3	cervix:	n/a
5	chr11:120080945-120080995	HAEpiC	amniotic membrane:	n/a
6	chr11:120080945-120080995	HCPEpiC	choroid plexus:	n/a
7	chr11:120080945-120080995	NHBE	bronchial:	n/a
8	chr11:120080945-120080995	AG04449	skin:	fetal
9	chr11:120080945-120080995	HIPEpiC	eye:	n/a
10	chr11:120080945-120080995	GM06990	blood:	n/a
11	chr11:120080945-120080995	SAEC	small airway:	n/a
12	chr11:120080945-120080995	GM12878	blood:	n/a
13	chr11:120080945-120080995	HMEC	breast:	n/a
14	chr11:120080945-120080995	RPTEC	kidney:	n/a
15	chr11:120080945-120080995	SK-N-SH_RA	brain:	n/a
16	chr11:120080945-120080995	HRCEpiC	kidney:	n/a
17	chr11:120080945-120080995	ProgFib	skin:	n/a
18	chr11:120080945-120080995	AG09309	skin:	n/a
19	chr11:120080945-120080995	NHDF-neo	bronchial:	n/a
20	chr11:120080945-120080995	HepG2	liver:	n/a
21	chr11:120080945-120080995	H1-hESC	embryonic stem cell:	embryo
22	chr11:120080945-120080995	MCF-7	breast:	n/a
23	chr11:120080945-120080995	HCM	heart:	n/a
24	chr11:120080945-120080995	HCF	heart:	n/a
25	chr11:120080945-120080995	IMR90	lung:	fetal
26	chr11:120080945-120080995	BE2_C	brain:	n/a
27	chr11:120080945-120080995	K562	blood:	n/a
28	chr11:120080945-120080995	HRE	kidney:	n/a
29	chr11:120080945-120080995	PrEC	prostate:	n/a
30	chr11:120080945-120080995	BJ	skin:	n/a
31	chr11:120080945-120080995	U87	brain:	n/a
32	chr11:120080945-120080995	NT2-D1	testis:	n/a
33	chr11:120080945-120080995	NB4	blood:	n/a
34	chr11:120080945-120080995	AG04450	lung:	fetal
35	chr11:120080945-120080995	LNCaP	prostate:	n/a
36	chr11:120080945-120080995	NH-A	brain:	n/a
37	chr11:120080945-120080995	ECC-1	luminal epithelium:	n/a
38	chr11:120080945-120080995	HL-60	blood:	n/a
39	chr11:120080945-120080995	PANC-1	pancreas:	n/a
40	chr11:120080945-120080995	HRPEpiC	eye:	n/a
41	chr11:120080945-120080995	Hepatocyte	liver:	n/a
42	chr11:120080945-120080995	GM12892	blood:	n/a
43	chr11:120080945-120080995	T-47D	breast:	n/a
44	chr11:120080945-120080995	AoSMC	blood vessel:	n/a
45	chr11:120080945-120080995	MCF10A-Er-Src	breast:	n/a
46	chr11:120080945-120080995	HEK293	kidney:	embryo
47	chr11:120080945-120080995	A549	lung:	n/a
48	chr11:120080945-120080995	AG09319	gingival:	n/a
49	chr11:120080945-120080995	SK-N-MC	brain:	n/a
50	chr11:120080945-120080995	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120080662..120083182-chr11:120083944..120086303,3	MCF-7	breast:
3	chr11:120054593..120056417-chr11:120079805..120082698,2	K562	blood:
4	chr11:120066886..120069148-chr11:120079541..120081080,2	K562	blood:
5	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
6	chr11:120078701..120081046-chr11:120081423..120083396,2	K562	blood:

Variant related genes	Relation type
OAF	TF binding region
OAF	CpG island
ENSG00000184232	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3322007	chr11:120079642-120084040	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3325819	chr11:120080267-120083115	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120075200-120081000	Enhancers	Pancreas	Pancrea
2	chr11:120078000-120081200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:120078400-120081000	Enhancers	Esophagus	oesophagus
4	chr11:120078400-120081000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:120078400-120081000	Enhancers	Small Intestine	intestine
6	chr11:120078600-120081000	Enhancers	HMEC	breast
7	chr11:120078600-120081000	Enhancers	HUVEC	blood vessel
8	chr11:120080400-120081000	Enhancers	Right Ventricle	heart
9	chr11:120080400-120081000	Flanking Active TSS	Stomach Mucosa	stomach
10	chr11:120080400-120081200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:120080400-120081200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr11:120080400-120081200	Flanking Active TSS	Liver	Liver
13	chr11:120080400-120081200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr11:120080400-120081200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr11:120080400-120081200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr11:120080400-120081200	Flanking Active TSS	HepG2	liver
17	chr11:120080400-120081400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:120080400-120081400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:120080400-120081400	Enhancers	Fetal Heart	heart
20	chr11:120080600-120081000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
21	chr11:120080600-120081000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:120080600-120081000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
23	chr11:120080600-120081000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:120080600-120081000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr11:120080600-120081000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
26	chr11:120080600-120081000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr11:120080600-120081000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
28	chr11:120080600-120081000	Bivalent Enhancer	Fetal Brain Male	brain
29	chr11:120080600-120081000	Weak transcription	Gastric	stomach
30	chr11:120080600-120081000	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr11:120080600-120081000	Flanking Active TSS	NHLF	lung
32	chr11:120080600-120081200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr11:120080600-120081200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr11:120080600-120081200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:120080600-120081200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr11:120080600-120081200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr11:120080600-120081200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:120080600-120081200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:120080600-120081200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:120080600-120081200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:120080600-120081200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr11:120080600-120081200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:120080600-120081200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:120080600-120081200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:120080600-120081200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr11:120080600-120081200	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:120080600-120081200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr11:120080600-120081200	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr11:120080600-120081200	Flanking Active TSS	Colonic Mucosa	Colon
50	chr11:120080600-120081200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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