Variant report

Variant	rs1083740
Chromosome Location	chr6:74273738-74273739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74227750..74233305-chr6:74272676..74276952,12	K562	blood:
2	chr6:74269217..74272384-chr6:74272449..74274240,3	K562	blood:
3	chr6:74273534..74278713-chr6:74287099..74290342,5	K562	blood:
4	chr6:74227140..74235678-chr6:74271460..74282263,27	K562	blood:
5	chr6:74273534..74277710-chr6:74287099..74290160,5	K562	blood:
6	chr6:74272516..74275188-chr6:74290634..74292979,3	K562	blood:
7	chr6:74231537..74233580-chr6:74271665..74274505,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156508	Chromatin interaction
ENSG00000229862	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1083741	0.94[EUR][1000 genomes]
rs1245279	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1245344	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1245345	0.84[EUR][1000 genomes]
rs1245346	0.84[EUR][1000 genomes]
rs1245348	0.86[EUR][1000 genomes]
rs2643196	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2753184	0.94[EUR][1000 genomes]
rs371827	0.90[EUR][1000 genomes]
rs477431	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs479248	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs537379	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs605857	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs606263	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs625478	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs628732	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs654973	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs780062	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs780063	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs780069	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs780070	0.88[EUR][1000 genomes]
rs9352002	0.81[EUR][1000 genomes]
rs9352007	0.83[EUR][1000 genomes]
rs9360689	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
9	nsv886159	chr6:74223153-74275405	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	esv3329439	chr6:74273347-74274064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1083740	MTO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74266000-74275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:74267200-74273800	Weak transcription	K562	blood
3	chr6:74268600-74274600	Weak transcription	HSMMtube	muscle
4	chr6:74268800-74275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:74269000-74276800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:74269200-74275200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:74269400-74275400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:74270400-74275200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:74270400-74275200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:74270600-74275000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:74270600-74275200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:74270600-74275200	Weak transcription	Osteobl	bone
13	chr6:74270600-74275400	Weak transcription	NH-A	brain
14	chr6:74270800-74275000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:74270800-74275200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:74270800-74275200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:74270800-74275200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:74270800-74275400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:74271000-74274600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:74271000-74274800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:74271000-74275000	Weak transcription	Liver	Liver
22	chr6:74271000-74276200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:74271200-74274200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:74271200-74275200	Weak transcription	A549	lung
25	chr6:74271200-74276200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:74271200-74276800	Weak transcription	Esophagus	oesophagus
27	chr6:74271400-74274400	Weak transcription	HepG2	liver
28	chr6:74271400-74276000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:74271800-74275200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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