Variant report

Variant	rs679272
Chromosome Location	chr6:74175592-74175593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:74175416-74175752	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:74000304-74012200..6:74160392-74184826	K562	blood:
2	chr6:74173841..74176541-chr6:74188784..74190824,2	K562	blood:

Variant related genes	Relation type
MTO1	TF binding region
ENSG00000234882	Chromatin interaction
ENSG00000135297	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12198468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1245345	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1245346	0.81[EUR][1000 genomes]
rs1390080	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1713862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2643196	0.90[ASN][1000 genomes]
rs28576277	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4708060	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs516203	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs523883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535902	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs541178	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs608026	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs621493	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs625478	0.86[ASN][1000 genomes]
rs649909	0.84[ASN][1000 genomes]
rs658475	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs674708	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6907936	1.00[ASN][1000 genomes]
rs7749897	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9293930	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9341424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352000	1.00[ASN][1000 genomes]
rs9352002	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9352007	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9360689	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9446904	1.00[ASN][1000 genomes]
rs951332	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs679272	MTO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74176800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:74172200-74189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:74172200-74189600	Weak transcription	Stomach Mucosa	stomach
4	chr6:74172200-74197200	Weak transcription	Fetal Heart	heart
5	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:74172400-74175800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:74172400-74177400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:74172400-74178000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:74172400-74178200	Weak transcription	Fetal Kidney	kidney
10	chr6:74172400-74183000	Weak transcription	Aorta	Aorta
11	chr6:74172400-74183400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:74172800-74175600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:74172800-74175600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:74172800-74175800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:74172800-74175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:74172800-74175800	Weak transcription	HSMM	muscle
17	chr6:74172800-74176000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:74172800-74176000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:74172800-74176000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:74172800-74176000	Weak transcription	NH-A	brain
21	chr6:74172800-74176200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:74172800-74176200	Weak transcription	HSMMtube	muscle
23	chr6:74172800-74176600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:74172800-74176600	Weak transcription	Ovary	ovary
25	chr6:74172800-74177000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:74172800-74177600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:74172800-74177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:74172800-74178600	Weak transcription	NHLF	lung
29	chr6:74172800-74181400	Strong transcription	Fetal Stomach	stomach
30	chr6:74172800-74183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:74172800-74183000	Weak transcription	A549	lung
32	chr6:74172800-74183200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:74173000-74175600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:74173000-74175600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:74173000-74183000	Weak transcription	Psoas Muscle	Psoas
36	chr6:74173000-74183200	Weak transcription	Colonic Mucosa	Colon
37	chr6:74173200-74175600	Weak transcription	Lung	lung
38	chr6:74173200-74175800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:74173200-74175800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:74173200-74175800	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:74173200-74175800	Weak transcription	Fetal Brain Male	brain
42	chr6:74173200-74175800	Weak transcription	Placenta	Placenta
43	chr6:74173200-74175800	Weak transcription	Thymus	Thymus
44	chr6:74173200-74175800	Weak transcription	HMEC	breast
45	chr6:74173200-74175800	Weak transcription	Osteobl	bone
46	chr6:74173200-74176000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:74173200-74176000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:74173200-74176000	Weak transcription	Adipose Nuclei	Adipose
49	chr6:74173200-74176000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:74173200-74176000	Weak transcription	Brain Substantia Nigra	brain

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