Variant report

Variant	rs3133444
Chromosome Location	chr11:93063663-93063664
allele	C/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	EP300	chr11:93063209-93063953	K562	blood:	n/a	chr11:93063682-93063691 chr11:93063679-93063688
2	MYC	chr11:93063496-93063821	A549	lung:	n/a	chr11:93063738-93063747
3	E2F4	chr11:93063454-93064272	K562	blood:	n/a	chr11:93063682-93063692 chr11:93063676-93063686 chr11:93063679-93063689
4	MAZ	chr11:93063189-93064233	K562	blood:	n/a	chr11:93063738-93063747
5	POLR2A	chr11:93063466-93064178	K562	blood:	n/a	n/a
6	E2F6	chr11:93063492-93064190	K562	blood:	n/a	chr11:93063682-93063692 chr11:93063676-93063686 chr11:93063767-93063778 chr11:93063679-93063689
7	TAL1	chr11:93063579-93063779	K562	blood:	n/a	n/a
8	E2F6	chr11:93063177-93064200	K562	blood:	n/a	chr11:93063682-93063692 chr11:93063676-93063686 chr11:93063767-93063778 chr11:93063679-93063689
9	MAX	chr11:93063464-93063888	K562	blood:	n/a	chr11:93063738-93063747
10	TBP	chr11:93063529-93063741	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:93063539-93064003	K562	blood:	n/a	n/a
12	HMGN3	chr11:93063315-93064240	K562	blood:	n/a	n/a
13	TAF1	chr11:93063633-93064086	K562	blood:	n/a	n/a
14	MYC	chr11:93063565-93063833	H1-hESC	embryonic stem cell:	n/a	chr11:93063738-93063747
15	MAX	chr11:93063392-93064213	H1-hESC	embryonic stem cell:	n/a	chr11:93063738-93063747
16	MAX	chr11:93063436-93064006	A549	lung:	n/a	chr11:93063738-93063747
17	HEY1	chr11:93063459-93064091	K562	blood:	n/a	chr11:93063916-93063931 chr11:93063679-93063694 chr11:93063680-93063695
18	UBTF	chr11:93063141-93063824	K562	blood:	n/a	n/a
19	CBX3	chr11:93063074-93063896	K562	blood:	n/a	n/a
20	ZNF143	chr11:93063548-93063746	H1-hESC	embryonic stem cell:	n/a	n/a
21	UBTF	chr11:93063148-93064078	K562	blood:	n/a	n/a
22	JUND	chr11:93063656-93063812	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr11:93063382-93063797	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr11:93063069-93064301	H1-hESC	embryonic stem cell:	n/a	chr11:93063738-93063747
25	POLR2A	chr11:93063483-93064061	K562	blood:	n/a	n/a
26	MAX	chr11:93063180-93063759	H1-hESC	embryonic stem cell:	n/a	chr11:93063738-93063747
27	ZBTB7A	chr11:93063653-93064150	K562	blood:	n/a	n/a
28	YY1	chr11:93063560-93064042	K562	blood:	n/a	chr11:93063675-93063689 chr11:93063684-93063693 chr11:93063669-93063683 chr11:93063681-93063690 chr11:93063681-93063692 chr11:93063676-93063690 chr11:93063679-93063693
29	HEY1	chr11:93063484-93064039	K562	blood:	n/a	chr11:93063916-93063931 chr11:93063679-93063694 chr11:93063680-93063695
30	CHD2	chr11:93063635-93063765	GM12878	blood:	n/a	n/a
31	E2F6	chr11:93063447-93064273	H1-hESC	embryonic stem cell:	n/a	chr11:93063682-93063692 chr11:93063676-93063686 chr11:93063767-93063778 chr11:93063679-93063689
32	GTF2F1	chr11:93063392-93063791	H1-hESC	embryonic stem cell:	n/a	n/a
33	YY1	chr11:93063512-93064207	K562	blood:	n/a	chr11:93063675-93063689 chr11:93063684-93063693 chr11:93063669-93063683 chr11:93063681-93063690 chr11:93063681-93063692 chr11:93063676-93063690 chr11:93063679-93063693
34	HCFC1	chr11:93063606-93064011	K562	blood:	n/a	n/a
35	MXI1	chr11:93063561-93063808	K562	blood:	n/a	chr11:93063732-93063747
36	TBP	chr11:93063161-93064139	K562	blood:	n/a	n/a
37	CHD2	chr11:93063536-93064041	H1-hESC	embryonic stem cell:	n/a	chr11:93063965-93063975
38	RCOR1	chr11:93063184-93063697	K562	blood:	n/a	n/a
39	MAX	chr11:93063387-93064225	K562	blood:	n/a	chr11:93063738-93063747
40	TBL1XR1	chr11:93063638-93063949	K562	blood:	n/a	n/a
41	MAX	chr11:93063402-93064208	ECC-1	luminal epithelium:	n/a	chr11:93063738-93063747
42	E2F6	chr11:93063510-93064021	K562	blood:	n/a	chr11:93063682-93063692 chr11:93063676-93063686 chr11:93063767-93063778 chr11:93063679-93063689
43	JUND	chr11:93063409-93063815	K562	blood:	n/a	n/a
44	MAX	chr11:93063260-93064115	K562	blood:	n/a	chr11:93063738-93063747
45	MYC	chr11:93063618-93063905	K562	blood:	n/a	chr11:93063738-93063747
46	RCOR1	chr11:93063078-93064572	K562	blood:	n/a	n/a
47	SIN3A	chr11:93063156-93063892	H1-hESC	embryonic stem cell:	n/a	chr11:93063671-93063680 chr11:93063293-93063304
48	ZMIZ1	chr11:93063347-93064075	K562	blood:	n/a	n/a
49	E2F6	chr11:93063176-93064262	H1-hESC	embryonic stem cell:	n/a	chr11:93063682-93063692 chr11:93063676-93063686 chr11:93063767-93063778 chr11:93063679-93063689
50	POLR2A	chr11:93063597-93063865	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:93063662-93063712	HCPEpiC	choroid plexus:	n/a
2	chr11:93063662-93063712	AG10803	skin:	n/a
3	chr11:93063662-93063712	HRCEpiC	kidney:	n/a
4	chr11:93063662-93063712	RPTEC	kidney:	n/a
5	chr11:93063662-93063712	ovcar-3	ovarian:	n/a
6	chr11:93063662-93063712	NHDF-neo	bronchial:	n/a
7	chr11:93063662-93063712	GM12892	blood:	n/a
8	chr11:93063662-93063712	HRE	kidney:	n/a
9	chr11:93063662-93063712	GM19239	blood:	n/a
10	chr11:93063662-93063712	SK-N-MC	brain:	n/a
11	chr11:93063662-93063712	A549	lung:	n/a
12	chr11:93063662-93063712	Jurkat	blood:	n/a
13	chr11:93063662-93063712	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:93063662-93063712	AG09319	gingival:	n/a
15	chr11:93063662-93063712	GM06990	blood:	n/a
16	chr11:93063662-93063712	NB4	blood:	n/a
17	chr11:93063662-93063712	Hela-S3	cervix:	n/a
18	chr11:93063662-93063712	AG04449	skin:	fetal
19	chr11:93063662-93063712	MCF-7	breast:	n/a
20	chr11:93063662-93063712	PANC-1	pancreas:	n/a
21	chr11:93063662-93063712	IMR90	lung:	fetal
22	chr11:93063662-93063712	HRPEpiC	eye:	n/a
23	chr11:93063662-93063712	AG04450	lung:	fetal
24	chr11:93063662-93063712	GM12891	blood:	n/a
25	chr11:93063662-93063712	HL-60	blood:	n/a
26	chr11:93063662-93063712	SKMC	muscle:	n/a
27	chr11:93063662-93063712	AG09309	skin:	n/a
28	chr11:93063662-93063712	K562	blood:	n/a
29	chr11:93063662-93063712	BJ	skin:	n/a
30	chr11:93063662-93063712	HEEpiC	esophagus:	n/a
31	chr11:93063662-93063712	H1-hESC	embryonic stem cell:	embryo
32	chr11:93063662-93063712	HepG2	liver:	n/a
33	chr11:93063662-93063712	HIPEpiC	eye:	n/a
34	chr11:93063662-93063712	SAEC	small airway:	n/a
35	chr11:93063662-93063712	CMK	blood:	n/a
36	chr11:93063662-93063712	U87	brain:	n/a
37	chr11:93063662-93063712	SK-N-SH	brain:	n/a
38	chr11:93063662-93063712	HUVEC	blood vessel:	n/a
39	chr11:93063662-93063712	T-47D	breast:	n/a
40	chr11:93063662-93063712	Caco-2	colon:	n/a
41	chr11:93063662-93063712	LNCaP	prostate:	n/a
42	chr11:93063662-93063712	HEK293	kidney:	embryo
43	chr11:93063662-93063712	GM12878	blood:	n/a
44	chr11:93063662-93063712	MCF10A-Er-Src	breast:	n/a
45	chr11:93063662-93063712	AoSMC	blood vessel:	n/a
46	chr11:93063662-93063712	HCM	heart:	n/a
47	chr11:93063662-93063712	Hepatocyte	liver:	n/a
48	chr11:93063662-93063712	HNPCEpiC	eye:	n/a
49	chr11:93063662-93063712	PFSK-1	brain:	n/a
50	chr11:93063662-93063712	ProgFib	skin:	n/a

Variant related genes	Relation type
CCDC67	TF binding region
CCDC67	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs3019208	0.83[EUR][1000 genomes]
rs3019209	0.82[EUR][1000 genomes]
rs3019211	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019212	0.83[EUR][1000 genomes]
rs3019213	0.83[EUR][1000 genomes]
rs3020050	0.83[EUR][1000 genomes]
rs3020052	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020053	0.83[EUR][1000 genomes]
rs3020054	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020061	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020062	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020064	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020065	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020066	0.83[EUR][1000 genomes]
rs3020067	0.83[EUR][1000 genomes]
rs3020069	0.83[EUR][1000 genomes]
rs3133454	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6483233	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118644	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv438	chr11:93034411-93080513	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv898180	chr11:93045561-93082053	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3133444	CCDC67	cis	Thyroid	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93062800-93064600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:93063000-93063800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:93063000-93064000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:93063000-93064200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:93063000-93064200	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr11:93063000-93064200	Bivalent Enhancer	Placenta	Placenta
7	chr11:93063000-93064400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:93063000-93064600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:93063200-93063800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:93063200-93063800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:93063200-93063800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:93063200-93063800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
13	chr11:93063200-93063800	Active TSS	Brain Cingulate Gyrus	brain
14	chr11:93063200-93063800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr11:93063200-93063800	Active TSS	Fetal Lung	lung
16	chr11:93063200-93063800	Bivalent/Poised TSS	Left Ventricle	heart
17	chr11:93063200-93063800	Active TSS	Rectal Smooth Muscle	rectum
18	chr11:93063200-93064000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:93063200-93064000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
20	chr11:93063200-93064000	Bivalent/Poised TSS	Osteobl	bone
21	chr11:93063200-93064200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:93063200-93064200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr11:93063200-93064200	Active TSS	Brain Substantia Nigra	brain
24	chr11:93063200-93064200	Active TSS	Colonic Mucosa	Colon
25	chr11:93063200-93064200	Active TSS	Right Atrium	heart
26	chr11:93063200-93064200	Active TSS	Stomach Smooth Muscle	stomach
27	chr11:93063200-93064400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:93063200-93064400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr11:93063200-93064400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:93063200-93064400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:93063200-93064400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:93063200-93065000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr11:93063400-93063800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:93063400-93063800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:93063400-93063800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
36	chr11:93063400-93063800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr11:93063400-93063800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
38	chr11:93063400-93063800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:93063400-93063800	Flanking Active TSS	Right Ventricle	heart
40	chr11:93063400-93063800	Bivalent/Poised TSS	NH-A	brain
41	chr11:93063400-93064000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:93063400-93064000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
43	chr11:93063400-93064000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:93063400-93064000	Active TSS	Pancreas	Pancrea
45	chr11:93063400-93064000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
46	chr11:93063400-93064000	Flanking Bivalent TSS/Enh	HMEC	breast
47	chr11:93063400-93064200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:93063400-93064200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:93063400-93064200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:93063400-93064200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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