Variant report

Variant	rs7771730
Chromosome Location	chr6:74234344-74234345
allele	G/T
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:5)
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	FOXA2	chr6:74233437-74234504	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
2	chr6:74228067..74234767-chr6:74357105..74365312,16	MCF-7	breast:
3	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
4	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
5	chr6:74173927..74176189-chr6:74233825..74235333,2	MCF-7	breast:

No data

Variant related genes	Relation type
EEF1A1	TF binding region
ENSG00000119899	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000218459	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1245347	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13203367	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1390081	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1390082	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1874229	0.90[EUR][1000 genomes]
rs2017272	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2291719	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4257823	0.88[EUR][1000 genomes]
rs4708062	0.90[EUR][1000 genomes]
rs617464	0.90[EUR][1000 genomes]
rs6453679	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6915328	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6918753	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7767833	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9352005	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9442916	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9446917	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv5350	chr6:74221995-74267088	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7771730	MTO1	Cis_1M	lymphoblastoid	RTeQTL
rs7771730	EEF1A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74231600-74234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:74232600-74234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:74233600-74234400	Flanking Active TSS	Dnd41	blood
4	chr6:74233600-74238200	Weak transcription	Gastric	stomach
5	chr6:74233800-74234400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:74234000-74234400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:74234000-74234400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:74234000-74234400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr6:74234000-74234400	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:74234000-74234400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr6:74234000-74234400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr6:74234000-74234400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:74234000-74234400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:74234000-74234400	Enhancers	Liver	Liver
15	chr6:74234000-74234400	Enhancers	Fetal Intestine Small	intestine
16	chr6:74234000-74234400	Enhancers	Placenta	Placenta
17	chr6:74234000-74234400	Enhancers	Fetal Thymus	thymus
18	chr6:74234000-74234400	Active TSS	Rectal Smooth Muscle	rectum
19	chr6:74234000-74234400	Enhancers	NHDF-Ad	bronchial
20	chr6:74234000-74234400	Enhancers	NHLF	lung
21	chr6:74234000-74235000	Weak transcription	NH-A	brain
22	chr6:74234000-74235200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:74234000-74235200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:74234000-74236600	Enhancers	Osteobl	bone
25	chr6:74234200-74234400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:74234200-74234400	Enhancers	Primary B cells from cord blood	blood
27	chr6:74234200-74234400	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:74234200-74234400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:74234200-74234400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:74234200-74234400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:74234200-74234400	Active TSS	Hela-S3	cervix
32	chr6:74234200-74234400	Enhancers	HepG2	liver
33	chr6:74234200-74234600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:74234200-74235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:74234200-74235800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:74234200-74238000	Weak transcription	K562	blood

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