Variant report

Variant	rs12526457
Chromosome Location	chr6:74172387-74172388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:74172326-74172652	K562	blood:	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
ENSG00000156508	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000224221	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000234882	Chromatin interaction
ENSG00000080007	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10943096	0.92[EUR][1000 genomes]
rs11754630	0.85[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];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11756242	0.92[EUR][1000 genomes]
rs11756668	0.87[EUR][1000 genomes]
rs11757033	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11760131	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12524204	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12526483	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];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12527011	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12527340	0.94[EUR][1000 genomes]
rs12529857	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17757139	0.86[EUR][1000 genomes]
rs2036039	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2073465	0.85[EUR][1000 genomes]
rs3806981	0.88[EUR][1000 genomes]
rs4340968	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4440422	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4706541	0.92[EUR][1000 genomes]
rs4708056	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4708059	0.92[EUR][1000 genomes]
rs58462079	0.92[EUR][1000 genomes]
rs62438380	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62438381	0.92[EUR][1000 genomes]
rs62438385	0.81[EUR][1000 genomes]
rs62438400	0.86[EUR][1000 genomes]
rs62438403	0.85[EUR][1000 genomes]
rs62438405	0.83[EUR][1000 genomes]
rs62438406	0.81[EUR][1000 genomes]
rs62440626	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6453676	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6908789	0.92[EUR][1000 genomes]
rs6920811	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6925541	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73452507	0.92[EUR][1000 genomes]
rs7453831	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7754947	0.92[EUR][1000 genomes]
rs7765670	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9800809	0.85[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
rs12526457	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	chr6:74170400-74172400	Active TSS	Dnd41	blood
2	chr6:74170600-74172400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:74170600-74172400	Active TSS	Brain Germinal Matrix	brain
4	chr6:74170600-74172400	Active TSS	Fetal Stomach	stomach
5	chr6:74170600-74172600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr6:74170600-74172600	Active TSS	Primary T cells from cord blood	blood
7	chr6:74170600-74172600	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:74170600-74172600	Active TSS	Right Ventricle	heart
9	chr6:74170600-74172600	Active TSS	Thymus	Thymus
10	chr6:74170600-74172600	Active TSS	HSMM	muscle
11	chr6:74170600-74172800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:74170600-74173000	Active TSS	Hela-S3	cervix
13	chr6:74170800-74172400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:74170800-74172400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:74170800-74172400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr6:74170800-74172400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:74170800-74172400	Active TSS	Aorta	Aorta
18	chr6:74170800-74172400	Active TSS	Brain Cingulate Gyrus	brain
19	chr6:74170800-74172400	Active TSS	Fetal Intestine Small	intestine
20	chr6:74170800-74172400	Active TSS	Fetal Kidney	kidney
21	chr6:74170800-74172400	Active TSS	Left Ventricle	heart
22	chr6:74170800-74172600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:74170800-74172600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:74170800-74172600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:74170800-74172600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:74170800-74172600	Active TSS	Brain Angular Gyrus	brain
27	chr6:74170800-74172600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:74170800-74172600	Active TSS	Colonic Mucosa	Colon
29	chr6:74170800-74172600	Active TSS	Fetal Intestine Large	intestine
30	chr6:74170800-74172600	Active TSS	Fetal Lung	lung
31	chr6:74170800-74172600	Active TSS	Pancreas	Pancrea
32	chr6:74170800-74172600	Active TSS	Psoas Muscle	Psoas
33	chr6:74170800-74172600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr6:74170800-74172600	Active TSS	Right Atrium	heart
35	chr6:74170800-74172600	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr6:74170800-74172600	Active TSS	HUVEC	blood vessel
37	chr6:74170800-74172600	Active TSS	NHDF-Ad	bronchial
38	chr6:74170800-74172800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr6:74170800-74172800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr6:74170800-74172800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr6:74170800-74172800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:74170800-74172800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr6:74170800-74172800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr6:74170800-74172800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr6:74170800-74172800	Active TSS	Brain Anterior Caudate	brain
46	chr6:74170800-74172800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr6:74170800-74172800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr6:74170800-74172800	Active TSS	Ovary	ovary
49	chr6:74170800-74172800	Active TSS	A549	lung
50	chr6:74170800-74172800	Active TSS	HSMMtube	muscle

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