Variant report

Variant	rs12526483
Chromosome Location	chr6:74172586-74172587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr6:74172583-74172792	K562	blood:	n/a	n/a
2	RCOR1	chr6:74172477-74172803	K562	blood:	n/a	n/a
3	RAD21	chr6:74172512-74172706	Hela-S3	cervix:	n/a	n/a
4	JUND	chr6:74172542-74172801	K562	blood:	n/a	n/a
5	CEBPB	chr6:74172326-74172652	K562	blood:	n/a	n/a
6	CEBPB	chr6:74172450-74172758	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:74172510-74172890	K562	blood:	n/a	n/a
8	TEAD4	chr6:74172461-74172816	K562	blood:	n/a	n/a
9	POLR2A	chr6:74172527-74172849	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:74172524-74172779	Hela-S3	cervix:	n/a	n/a
11	YY1	chr6:74172475-74172768	GM12878	blood:	n/a	n/a
12	YY1	chr6:74172501-74172881	K562	blood:	n/a	n/a
13	ZNF384	chr6:74172516-74172800	GM12878	blood:	n/a	n/a
14	CBX3	chr6:74172432-74172858	K562	blood:	n/a	n/a
15	TAF1	chr6:74172499-74172852	K562	blood:	n/a	n/a
16	CBX3	chr6:74172481-74172726	K562	blood:	n/a	n/a
17	MAX	chr6:74172526-74172705	NB4	blood:	n/a	n/a
18	CTCF	chr6:74172580-74172730	GM06990	blood:	n/a	n/a
19	TAF1	chr6:74172497-74172730	Hela-S3	cervix:	n/a	n/a
20	ZNF384	chr6:74172508-74172979	K562	blood:	n/a	n/a
21	POLR2A	chr6:74172492-74172863	K562	blood:	n/a	n/a
22	POLR2A	chr6:74172456-74172663	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74170147..74173171-chr6:74228405..74233047,5	K562	blood:
2	6:74000304-74012200..6:74160392-74184826	K562	blood:
3	chr6:74169192..74174230-chr6:74229143..74231785,9	K562	blood:
4	chr6:74169360..74174580-chr6:74228668..74231530,6	MCF-7	breast:
5	chr6:74101120..74105028-chr6:74169928..74173303,3	K562	blood:
6	chr6:74160479..74164788-chr6:74167921..74174562,8	MCF-7	breast:
7	chr6:74170014..74172890-chr6:74363161..74365164,3	K562	blood:

No data

Variant related genes	Relation type
MTO1	TF binding region
RNU6-975P	TF binding region
ENSG00000164430	Chromatin interaction
ENSG00000234882	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000224221	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10943096	0.95[EUR][1000 genomes]
rs11754630	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11755449	0.86[AFR][1000 genomes]
rs11756187	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11756242	0.95[EUR][1000 genomes]
rs11756668	0.89[EUR][1000 genomes]
rs11757033	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11760131	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12524204	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12524548	0.83[EUR][1000 genomes]
rs12525146	0.80[EUR][1000 genomes]
rs12526457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526844	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12527011	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12527340	0.97[EUR][1000 genomes]
rs12529857	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17757139	0.88[EUR][1000 genomes]
rs2036039	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2073465	0.87[EUR][1000 genomes]
rs3806981	0.90[EUR][1000 genomes]
rs4340968	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4440422	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4706541	0.95[EUR][1000 genomes]
rs4708056	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4708059	0.95[EUR][1000 genomes]
rs58462079	0.95[EUR][1000 genomes]
rs62438380	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62438381	0.95[EUR][1000 genomes]
rs62438385	0.84[EUR][1000 genomes]
rs62438400	0.89[EUR][1000 genomes]
rs62438403	0.88[EUR][1000 genomes]
rs62438405	0.85[EUR][1000 genomes]
rs62438406	0.83[EUR][1000 genomes]
rs62440626	0.83[AMR][1000 genomes]
rs6453676	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6908789	0.95[EUR][1000 genomes]
rs6920811	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6925541	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73452507	0.95[EUR][1000 genomes]
rs7453831	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7754947	0.95[EUR][1000 genomes]
rs7765670	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9800809	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12526483	MTO1	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74170600-74172600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:74170600-74172600	Active TSS	Primary T cells from cord blood	blood
3	chr6:74170600-74172600	Active TSS	Duodenum Mucosa	Duodenum
4	chr6:74170600-74172600	Active TSS	Right Ventricle	heart
5	chr6:74170600-74172600	Active TSS	Thymus	Thymus
6	chr6:74170600-74172600	Active TSS	HSMM	muscle
7	chr6:74170600-74172800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:74170600-74173000	Active TSS	Hela-S3	cervix
9	chr6:74170800-74172600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:74170800-74172600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:74170800-74172600	Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:74170800-74172600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:74170800-74172600	Active TSS	Brain Angular Gyrus	brain
14	chr6:74170800-74172600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:74170800-74172600	Active TSS	Colonic Mucosa	Colon
16	chr6:74170800-74172600	Active TSS	Fetal Intestine Large	intestine
17	chr6:74170800-74172600	Active TSS	Fetal Lung	lung
18	chr6:74170800-74172600	Active TSS	Pancreas	Pancrea
19	chr6:74170800-74172600	Active TSS	Psoas Muscle	Psoas
20	chr6:74170800-74172600	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr6:74170800-74172600	Active TSS	Right Atrium	heart
22	chr6:74170800-74172600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr6:74170800-74172600	Active TSS	HUVEC	blood vessel
24	chr6:74170800-74172600	Active TSS	NHDF-Ad	bronchial
25	chr6:74170800-74172800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:74170800-74172800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr6:74170800-74172800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:74170800-74172800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr6:74170800-74172800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr6:74170800-74172800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:74170800-74172800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr6:74170800-74172800	Active TSS	Brain Anterior Caudate	brain
33	chr6:74170800-74172800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr6:74170800-74172800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:74170800-74172800	Active TSS	Ovary	ovary
36	chr6:74170800-74172800	Active TSS	A549	lung
37	chr6:74170800-74172800	Active TSS	HSMMtube	muscle
38	chr6:74170800-74172800	Active TSS	NH-A	brain
39	chr6:74170800-74172800	Active TSS	NHLF	lung
40	chr6:74170800-74173000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:74170800-74173000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:74170800-74173200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:74170800-74173200	Active TSS	Colon Smooth Muscle	Colon
44	chr6:74170800-74173200	Active TSS	Rectal Smooth Muscle	rectum
45	chr6:74170800-74173400	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:74170800-74173600	Active TSS	GM12878-XiMat	blood
47	chr6:74171000-74172600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:74171000-74172600	Active TSS	Primary hematopoietic stem cells	blood
49	chr6:74171000-74172600	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:74171000-74172600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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