Variant report

Variant	rs12533033
Chromosome Location	chr7:129483802-129483803
allele	G/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	MAFK	chr7:129483800-129484191	K562	blood:	n/a	chr7:129483989-129484000 chr7:129483994-129484003 chr7:129483990-129484001 chr7:129483989-129484004 chr7:129483994-129484004
2	SPI1	chr7:129483792-129484124	GM12891	blood:	n/a	n/a
3	TCF12	chr7:129483318-129483815	H1-hESC	embryonic stem cell:	n/a	n/a
4	GATA3	chr7:129483731-129484755	SK-N-SH	brain:	n/a	chr7:129483997-129484006
5	POLR2A	chr7:129483165-129484238	SK-N-SH	brain:	n/a	n/a
6	SP1	chr7:129483268-129483897	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr7:129483247-129483850	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr7:129483450-129484702	SK-N-SH	brain:	n/a	chr7:129484527-129484536
9	MAX	chr7:129483282-129484153	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:129483288-129484209	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr7:129483170-129484190	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr7:129483240-129483835	H1-hESC	embryonic stem cell:	n/a	n/a
13	NANOG	chr7:129483301-129483847	H1-hESC	embryonic stem cell:	n/a	chr7:129483711-129483725
14	MAX	chr7:129483182-129483865	ECC-1	luminal epithelium:	n/a	n/a
15	RFX5	chr7:129483687-129484045	K562	blood:	n/a	n/a
16	TCF12	chr7:129483202-129483996	ECC-1	luminal epithelium:	n/a	n/a
17	NFIC	chr7:129483201-129483943	ECC-1	luminal epithelium:	n/a	n/a
18	FOXM1	chr7:129483150-129484001	ECC-1	luminal epithelium:	n/a	n/a
19	TBP	chr7:129483342-129483810	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAFF	chr7:129483788-129484240	K562	blood:	n/a	n/a
21	EP300	chr7:129483107-129484297	ECC-1	luminal epithelium:	n/a	n/a
22	TEAD4	chr7:129483136-129483953	ECC-1	luminal epithelium:	n/a	n/a
23	ATF2	chr7:129483070-129483975	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFIC	chr7:129483121-129484026	ECC-1	luminal epithelium:	n/a	n/a
25	YY1	chr7:129483171-129483812	ECC-1	luminal epithelium:	n/a	n/a
26	CEBPB	chr7:129483461-129483885	ECC-1	luminal epithelium:	n/a	n/a
27	ESR1	chr7:129483388-129483845	ECC-1	luminal epithelium:	n/a	n/a
28	SIN3A	chr7:129483252-129484154	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr7:129483379-129483815	H1-neurons	neurons:	n/a	n/a
30	MAFK	chr7:129483386-129484248	H1-hESC	embryonic stem cell:	n/a	chr7:129483989-129484000 chr7:129483994-129484003 chr7:129483990-129484001 chr7:129483989-129484004 chr7:129483994-129484004
31	JUND	chr7:129483310-129484096	H1-hESC	embryonic stem cell:	n/a	chr7:129483994-129484006 chr7:129483996-129484004
32	FOXM1	chr7:129483141-129484060	ECC-1	luminal epithelium:	n/a	n/a
33	SPI1	chr7:129483777-129484250	HL-60	blood:	n/a	n/a
34	TEAD4	chr7:129483047-129483840	H1-hESC	embryonic stem cell:	n/a	n/a
35	TCF12	chr7:129483112-129484095	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr7:129483256-129483885	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr7:129483113-129484209	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr7:129483192-129483821	ECC-1	luminal epithelium:	n/a	n/a
39	EP300	chr7:129483246-129483977	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr7:129483213-129483816	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:129483362..129485207-chr7:129489886..129491437,2	K562	blood:
2	chr7:129475722..129477919-chr7:129481761..129484317,2	K562	blood:
3	chr7:129481959..129484139-chr7:129487927..129489459,2	K562	blood:
4	chr7:129480865..129483828-chr7:129591538..129593607,2	K562	blood:
5	chr7:129473601..129475464-chr7:129483502..129485104,2	MCF-7	breast:

Variant related genes	Relation type
UBE2H	TF binding region
ENSG00000186591	Chromatin interaction
ENSG00000244036	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs12530557	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531622	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531936	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532612	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532959	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533290	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533464	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12533528	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533953	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12534043	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534061	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535347	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535722	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535857	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536424	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537150	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537604	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537782	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12538787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539653	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539800	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540479	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540517	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464970	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464971	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464972	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1471874	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471877	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17559301	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965567	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1965568	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2631601	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2693727	1.00[GIH][hapmap]
rs2693737	1.00[GIH][hapmap]
rs2727457	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930431	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35189138	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55675451	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732825	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55735840	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55748031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55767113	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55769831	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772531	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55809128	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56022754	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025626	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56034137	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56080853	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56085705	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117230	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56153730	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167610	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56176516	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56191413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321762	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56332361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333543	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56376893	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381627	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56408895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs718925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129472200-129484200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:129472800-129491400	Weak transcription	Fetal Kidney	kidney
3	chr7:129474400-129485000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:129474400-129485400	Weak transcription	Small Intestine	intestine
5	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
6	chr7:129476400-129485200	Weak transcription	Lung	lung
7	chr7:129477200-129485000	Weak transcription	Aorta	Aorta
8	chr7:129477800-129495400	Weak transcription	HepG2	liver
9	chr7:129477800-129498400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:129478400-129486200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:129479200-129484000	Weak transcription	GM12878-XiMat	blood
12	chr7:129479200-129485200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:129479200-129489800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:129479200-129490800	Weak transcription	Liver	Liver
15	chr7:129479200-129490800	Weak transcription	Fetal Intestine Large	intestine
16	chr7:129479200-129495600	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:129479400-129493000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:129479400-129493200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
20	chr7:129479600-129485400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:129479600-129492600	Weak transcription	Placenta	Placenta
22	chr7:129480000-129486000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:129480200-129486000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:129480400-129484000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:129480400-129484200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:129480600-129484200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:129480600-129486400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:129480600-129486800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:129481200-129485000	Weak transcription	HSMMtube	muscle
30	chr7:129481200-129485200	Weak transcription	Adipose Nuclei	Adipose
31	chr7:129481200-129486200	Weak transcription	Brain Angular Gyrus	brain
32	chr7:129481200-129490800	Weak transcription	Brain Anterior Caudate	brain
33	chr7:129481200-129491400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:129481200-129493000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:129481200-129493000	Weak transcription	Fetal Lung	lung
36	chr7:129481400-129485000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:129481400-129499800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:129481400-129510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:129481600-129484000	Weak transcription	NHDF-Ad	bronchial
40	chr7:129481600-129485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:129481600-129485000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:129481600-129485000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:129481600-129485000	Weak transcription	Right Atrium	heart
44	chr7:129481600-129485000	Weak transcription	Right Ventricle	heart
45	chr7:129481600-129485000	Weak transcription	NHLF	lung
46	chr7:129481600-129486400	Weak transcription	Ovary	ovary
47	chr7:129481800-129485000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:129481800-129485200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:129482200-129484200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:129482200-129485000	Enhancers	Primary neutrophils fromperipheralblood	blood

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