Variant report

Variant	rs62491492
Chromosome Location	chr7:129480819-129480820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr7:129480358-129481278	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr7:129480202-129481222	ECC-1	luminal epithelium:	n/a	n/a
3	YY1	chr7:129480350-129480959	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr7:129480357-129481288	SK-N-SH	brain:	n/a	n/a
5	RXRA	chr7:129480496-129481277	SK-N-SH	brain:	n/a	n/a
6	EP300	chr7:129480363-129481111	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr7:129480333-129481161	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr7:129480531-129480931	ECC-1	luminal epithelium:	n/a	n/a
9	EP300	chr7:129480331-129481317	SK-N-SH	brain:	n/a	n/a
10	CEBPB	chr7:129480404-129481089	ECC-1	luminal epithelium:	n/a	n/a
11	NFIC	chr7:129480284-129481331	SK-N-SH	brain:	n/a	n/a
12	TEAD4	chr7:129480297-129481140	ECC-1	luminal epithelium:	n/a	n/a
13	TEAD4	chr7:129480326-129481097	ECC-1	luminal epithelium:	n/a	n/a
14	EBF1	chr7:129480680-129480922	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:129479758-129481429	SK-N-SH	brain:	n/a	n/a
16	TEAD4	chr7:129480322-129481343	SK-N-SH	brain:	n/a	n/a
17	FOXM1	chr7:129480250-129481137	ECC-1	luminal epithelium:	n/a	n/a
18	ATF1	chr7:129480777-129481054	K562	blood:	n/a	n/a
19	TCF12	chr7:129480079-129481209	ECC-1	luminal epithelium:	n/a	n/a
20	STAT3	chr7:129480508-129480879	MCF10A-Er-Src	breast:	n/a	n/a
21	ESR1	chr7:129480483-129481005	ECC-1	luminal epithelium:	n/a	n/a
22	GATA3	chr7:129480284-129481321	SK-N-SH	brain:	n/a	chr7:129480646-129480653 chr7:129481180-129481201 chr7:129481183-129481199
23	PBX3	chr7:129480399-129481267	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr7:129480233-129481304	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr7:129480151-129481414	SK-N-SH	brain:	n/a	chr7:129480646-129480653 chr7:129481180-129481201 chr7:129481183-129481199
26	EBF1	chr7:129480634-129480898	GM12878	blood:	n/a	n/a
27	ESR1	chr7:129480415-129480974	ECC-1	luminal epithelium:	n/a	n/a
28	TCF12	chr7:129480252-129481417	SK-N-SH	brain:	n/a	n/a
29	RAD21	chr7:129480303-129481033	ECC-1	luminal epithelium:	n/a	n/a
30	PBX3	chr7:129480312-129481357	SK-N-SH	brain:	n/a	n/a
31	EP300	chr7:129480285-129481328	SK-N-SH	brain:	n/a	n/a
32	NFIC	chr7:129480219-129481272	ECC-1	luminal epithelium:	n/a	n/a
33	EP300	chr7:129480524-129481103	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr7:129480176-129481199	ECC-1	luminal epithelium:	n/a	n/a
35	ESR1	chr7:129480468-129481100	ECC-1	luminal epithelium:	n/a	n/a
36	FOS	chr7:129480626-129480909	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr7:129480586-129481101	SK-N-SH	brain:	n/a	n/a
38	EP300	chr7:129480535-129481093	SK-N-SH_RA	brain:	n/a	n/a
39	MYC	chr7:129480597-129480913	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr7:129480738-129480938	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr7:129480374-129480878	MCF10A-Er-Src	breast:	n/a	n/a
42	FOXM1	chr7:129480307-129481134	ECC-1	luminal epithelium:	n/a	n/a
43	YY1	chr7:129480486-129480930	ECC-1	luminal epithelium:	n/a	n/a
44	NR3C1	chr7:129480551-129480991	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr7:129480299-129481063	ECC-1	luminal epithelium:	n/a	n/a

No data

Variant related genes	Relation type
UBE2H	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10216157	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240142	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10242002	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246707	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249037	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253233	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261367	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273782	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1046691	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500121	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526323	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162050	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162123	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162136	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162295	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17639187	1.00[ASN][1000 genomes]
rs2037720	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28604351	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58857902	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62489374	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62489375	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491503	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491504	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491537	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467267	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962745	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6979056	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161641	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789336	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801603	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803795	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656386	0.94[EUR][1000 genomes];1.00[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:122 , 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	chr7:129477800-129481000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:129477800-129481200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:129477800-129482400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:129477800-129483000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:129477800-129483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:129477800-129495400	Weak transcription	HepG2	liver
19	chr7:129477800-129498400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:129478400-129481200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:129478400-129483400	Weak transcription	Hela-S3	cervix
22	chr7:129478400-129486200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:129478800-129483200	Weak transcription	HUVEC	blood vessel
24	chr7:129479000-129482800	Weak transcription	Fetal Intestine Small	intestine
25	chr7:129479000-129483600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:129479200-129481000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:129479200-129483000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:129479200-129483000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:129479200-129483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:129479200-129483600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:129479200-129483600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:129479200-129483600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:129479200-129483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:129479200-129484000	Weak transcription	GM12878-XiMat	blood
35	chr7:129479200-129485200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:129479200-129489800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:129479200-129490800	Weak transcription	Liver	Liver
38	chr7:129479200-129490800	Weak transcription	Fetal Intestine Large	intestine
39	chr7:129479200-129495600	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:129479400-129483400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:129479400-129483400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr7:129479400-129493000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:129479400-129493200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
45	chr7:129479600-129482000	Weak transcription	Primary B cells from cord blood	blood
46	chr7:129479600-129482200	Enhancers	Left Ventricle	heart
47	chr7:129479600-129485400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:129479600-129492600	Weak transcription	Placenta	Placenta
49	chr7:129480000-129481200	Enhancers	Adipose Nuclei	Adipose
50	chr7:129480000-129481600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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