Variant report

Variant	rs55798026
Chromosome Location	chr7:129483187-129483188
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:129483165-129484238	SK-N-SH	brain:	n/a	n/a
2	ZNF263	chr7:129483179-129483775	HEK293-T-REx	kidney:	n/a	chr7:129483476-129483485
3	MAX	chr7:129483170-129484190	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr7:129483182-129483865	ECC-1	luminal epithelium:	n/a	n/a
5	FOXM1	chr7:129483150-129484001	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr7:129483107-129484297	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr7:129483136-129483953	ECC-1	luminal epithelium:	n/a	n/a
8	ATF2	chr7:129483070-129483975	H1-hESC	embryonic stem cell:	n/a	n/a
9	NFIC	chr7:129483121-129484026	ECC-1	luminal epithelium:	n/a	n/a
10	YY1	chr7:129483171-129483812	ECC-1	luminal epithelium:	n/a	n/a
11	FOXM1	chr7:129483141-129484060	ECC-1	luminal epithelium:	n/a	n/a
12	TEAD4	chr7:129483047-129483840	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr7:129483158-129483781	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF12	chr7:129483112-129484095	ECC-1	luminal epithelium:	n/a	n/a
15	ATF2	chr7:129483113-129484209	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129475722..129477919-chr7:129481761..129484317,2	K562	blood:
2	chr7:129481959..129484139-chr7:129487927..129489459,2	K562	blood:
3	chr7:129480865..129483828-chr7:129591538..129593607,2	K562	blood:

No data

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

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs12530557	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531622	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531936	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	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533953	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12534043	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534061	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534320	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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535728	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	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536978	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537150	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537336	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537576	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	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	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	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540517	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540541	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12690	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	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464972	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	0.86[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	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
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]
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	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718926	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639	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	chr7:129466200-129483800	Weak transcription	Dnd41	blood
2	chr7:129466400-129483400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:129470400-129483600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:129472200-129484200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:129472800-129491400	Weak transcription	Fetal Kidney	kidney
6	chr7:129474400-129485000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:129474400-129485400	Weak transcription	Small Intestine	intestine
8	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
9	chr7:129476400-129485200	Weak transcription	Lung	lung
10	chr7:129477200-129483200	Weak transcription	Gastric	stomach
11	chr7:129477200-129485000	Weak transcription	Aorta	Aorta
12	chr7:129477600-129483800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:129477800-129483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:129477800-129495400	Weak transcription	HepG2	liver
15	chr7:129477800-129498400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:129478400-129483400	Weak transcription	Hela-S3	cervix
17	chr7:129478400-129486200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:129478800-129483200	Weak transcription	HUVEC	blood vessel
19	chr7:129479000-129483600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:129479200-129483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:129479200-129483600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:129479200-129483600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:129479200-129483600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:129479200-129483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:129479200-129484000	Weak transcription	GM12878-XiMat	blood
26	chr7:129479200-129485200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:129479200-129489800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:129479200-129490800	Weak transcription	Liver	Liver
29	chr7:129479200-129490800	Weak transcription	Fetal Intestine Large	intestine
30	chr7:129479200-129495600	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:129479400-129483400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:129479400-129483400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:129479400-129493000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:129479400-129493200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
36	chr7:129479600-129485400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:129479600-129492600	Weak transcription	Placenta	Placenta
38	chr7:129480000-129486000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:129480200-129486000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:129480400-129483600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:129480400-129484000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:129480400-129484200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:129480600-129484200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:129480600-129486400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr7:129480600-129486800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:129480800-129483200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:129481200-129483200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:129481200-129483400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:129481200-129483400	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:129481200-129483400	Weak transcription	Brain Substantia Nigra	brain

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