Variant report

Variant	rs606263
Chromosome Location	chr6:74279910-74279911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74278735..74283200-chr6:74288390..74290564,5	K562	blood:
2	chr6:74277679..74279983-chr6:74283539..74285265,2	K562	blood:
3	chr6:74230653..74233230-chr6:74279023..74281094,2	MCF-7	breast:
4	chr6:74229266..74230904-chr6:74278283..74280721,3	MCF-7	breast:
5	chr6:74227140..74231865-chr6:74277040..74281960,6	K562	blood:
6	chr6:74227140..74235678-chr6:74271460..74282263,27	K562	blood:

Variant related genes	Relation type
ENSG00000229862	Chromatin interaction
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1083740	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1083741	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12198468	1.00[JPT][hapmap]
rs1245279	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1245344	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1245345	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1245346	0.80[EUR][1000 genomes]
rs1245348	0.82[EUR][1000 genomes]
rs1390080	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1691341	1.00[CEU][hapmap]
rs1691349	0.82[EUR][1000 genomes]
rs1713862	1.00[JPT][hapmap]
rs1741895	1.00[CEU][hapmap];0.80[TSI][hapmap]
rs1848523	1.00[CEU][hapmap]
rs1874231	1.00[CEU][hapmap]
rs2643196	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2753184	0.90[EUR][1000 genomes]
rs364734	1.00[CEU][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs371827	1.00[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs3757108	1.00[CEU][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs4079357	1.00[CEU][hapmap]
rs4708060	1.00[CEU][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.81[ASN][1000 genomes]
rs472294	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs473078	1.00[CEU][hapmap]
rs476838	1.00[CEU][hapmap]
rs477431	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs479248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494807	0.80[EUR][1000 genomes]
rs506262	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs516203	0.81[ASN][1000 genomes]
rs523883	1.00[JPT][hapmap]
rs535902	0.81[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs537379	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs541178	0.81[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs543642	1.00[CEU][hapmap]
rs598121	0.82[EUR][1000 genomes]
rs60551677	0.80[EUR][1000 genomes]
rs605857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608026	0.81[ASN][1000 genomes]
rs608557	0.82[EUR][1000 genomes]
rs609829	1.00[CEU][hapmap]
rs625478	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs628732	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs636166	1.00[CEU][hapmap]
rs654973	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs658475	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs673511	1.00[CEU][hapmap]
rs674708	0.81[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6907936	1.00[JPT][hapmap]
rs7749897	0.81[ASN][1000 genomes]
rs7764560	1.00[CEU][hapmap]
rs780062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs780063	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs780069	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs780070	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9293930	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs9341424	1.00[JPT][hapmap]
rs9352000	1.00[JPT][hapmap]
rs9352002	0.81[ASN][1000 genomes]
rs9352007	0.81[ASN][1000 genomes]
rs9360689	0.81[ASN][1000 genomes]
rs9446952	1.00[CEU][hapmap]
rs951332	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv463153	chr6:74229258-74290291	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
9	nsv603693	chr6:74229258-74290291	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
10	nsv527357	chr6:74253266-74325403	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs606263	MTO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74276400-74280200	Weak transcription	Fetal Heart	heart
2	chr6:74276400-74287800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:74277200-74280600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:74277200-74280600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:74277200-74280600	Weak transcription	HSMM	muscle
6	chr6:74277200-74280800	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:74277200-74280800	Weak transcription	K562	blood
8	chr6:74277200-74287200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:74277200-74287400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:74277200-74287600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:74277200-74288600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:74277400-74280400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:74277400-74280600	Weak transcription	HSMMtube	muscle
14	chr6:74277400-74280800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:74277800-74280600	Weak transcription	A549	lung
16	chr6:74277800-74280800	Weak transcription	Liver	Liver
17	chr6:74278200-74280800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:74278200-74288600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:74278400-74281400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:74279000-74280600	Weak transcription	HepG2	liver
21	chr6:74279000-74280800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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