Variant report

Variant	rs7751342
Chromosome Location	chr6:74225145-74225146
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
2	chr6:74221858..74225913-chr6:74344087..74347278,4	K562	blood:
3	chr11:66404729..66407374-chr6:74223216..74225857,2	MCF-7	breast:
4	chr12:109124830..109125499-chr6:74225079..74225629,2	HCT-116	colon:
5	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
6	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
7	6:74062967-74076046..6:74208016-74225478	GM12878	blood:
8	chr6:74213210..74215284-chr6:74222845..74225477,3	MCF-7	breast:
9	chr19:27732624..27734230-chr6:74223460..74226002,2	K562	blood:
10	chr6:74212439..74215009-chr6:74224269..74226857,3	K562	blood:
11	chr2:240323018..240323922-chr6:74224679..74225228,2	Hela-S3	cervix:
12	6:74078047-74099067..6:74208016-74225478	GM12878	blood:
13	chr6:74170441..74172444-chr6:74224401..74225902,2	K562	blood:
14	chr6:74223467..74225709-chr6:74277005..74278629,2	K562	blood:
15	chr6:74225088..74225957-chr6:74362036..74362739,2	K562	blood:
16	chr6:74170216..74172624-chr6:74223234..74225389,2	MCF-7	breast:
17	chr6:74224069..74225864-chr6:74351456..74354072,2	K562	blood:
18	chr6:74223257..74225593-chr6:74265875..74267970,2	MCF-7	breast:
19	6:74160392-74184826..6:74208016-74225478	GM12878	blood:
20	chr6:74224731..74227421-chr6:74361806..74363965,4	MCF-7	breast:
21	chr6:74208769..74210712-chr6:74223210..74225571,3	K562	blood:
22	chr6:74205300..74207492-chr6:74221549..74225584,4	K562	blood:
23	chr6:74222886..74227431-chr6:74328724..74331054,7	K562	blood:
24	chr6:74209113..74211687-chr6:74224027..74227100,3	MCF-7	breast:
25	chr6:74223159..74225913-chr6:74344087..74347771,5	K562	blood:
26	chr6:74222835..74225633-chr6:74251462..74253727,3	K562	blood:
27	chr6:74225075..74226081-chr7:26239812..26240656,3	Hela-S3	cervix:
28	6:74099986-74112890..6:74208016-74225478	Hela-S3	cervix:
29	chr6:74224564..74225179-chr7:44836055..44836690,2	Hela-S3	cervix:
30	chr6:74222972..74225246-chr6:74258116..74260995,4	K562	blood:
31	chr5:111496306..111498439-chr6:74223998..74225823,2	MCF-7	breast:
32	chr6:74224257..74227085-chr6:74333037..74337394,5	K562	blood:
33	chr6:74161254..74162844-chr6:74224289..74225838,2	MCF-7	breast:
34	chr6:74222064..74227666-chr6:74315829..74323019,13	MCF-7	breast:
35	chr6:74200414..74202246-chr6:74223331..74226250,3	K562	blood:
36	chr6:74223088..74226507-chr6:74303403..74307438,4	K562	blood:
37	chr6:74207658..74210612-chr6:74224071..74227518,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224221	Chromatin interaction
ENSG00000068024	Chromatin interaction
ENSG00000222020	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000224032	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000110880	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000203909	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000235174	Chromatin interaction
ENSG00000207023	Chromatin interaction
ENSG00000218459	Chromatin interaction
ENSG00000238363	Chromatin interaction
ENSG00000196262	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1128073	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390081	0.83[EUR][1000 genomes]
rs1390082	0.81[EUR][1000 genomes]
rs1874229	0.81[GIH][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs1874230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073466	0.81[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2882584	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3822960	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4257823	0.85[EUR][1000 genomes]
rs4708062	0.80[EUR][1000 genomes]
rs569652	0.88[EUR][1000 genomes]
rs577372	0.81[ASW][hapmap];0.91[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs613787	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs616610	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs617464	0.83[TSI][hapmap]
rs673265	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6915328	0.83[EUR][1000 genomes]
rs693434	0.87[EUR][1000 genomes]
rs7741376	0.87[EUR][1000 genomes]
rs9343053	0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9352001	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9352003	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9352004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352005	0.81[TSI][hapmap]
rs9352006	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9442916	0.80[EUR][1000 genomes]
rs9446917	0.81[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7751342	MTO1	cis	lymphoblastoid	seeQTL
rs7751342	EEF1A1	cis	parietal	SCAN
rs7751342	EEF1A1	cis	cerebellum	SCAN
rs7751342	SMAP1	cis	parietal	SCAN
rs7751342	EEF1A1	Cis_1M	lymphoblastoid	RTeQTL
rs7751342	MTO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:74187600-74228400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:74192200-74226000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:74197800-74225200	Weak transcription	Colonic Mucosa	Colon
5	chr6:74208000-74225200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:74208400-74226000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:74208400-74226400	Weak transcription	Ovary	ovary
8	chr6:74211600-74225800	Weak transcription	Aorta	Aorta
9	chr6:74211600-74226000	Weak transcription	HepG2	liver
10	chr6:74211800-74225800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:74211800-74226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:74212400-74226000	Weak transcription	Spleen	Spleen
13	chr6:74214000-74228000	Weak transcription	Right Ventricle	heart
14	chr6:74214200-74225200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:74214200-74225200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:74214200-74225800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:74214200-74226000	Weak transcription	Fetal Brain Female	brain
18	chr6:74214600-74226000	Weak transcription	Gastric	stomach
19	chr6:74215000-74225200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:74221600-74225200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:74222200-74225200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:74222800-74226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:74223000-74225200	Strong transcription	Thymus	Thymus
24	chr6:74223000-74225600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:74223600-74225200	Strong transcription	Right Atrium	heart
26	chr6:74224000-74225600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:74224200-74225800	Genic enhancers	Fetal Intestine Large	intestine
28	chr6:74224200-74226000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:74224200-74226000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:74224200-74226200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:74224200-74226400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:74224200-74228000	Strong transcription	Left Ventricle	heart
33	chr6:74224200-74228600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:74224200-74229000	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr6:74224200-74229000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr6:74224200-74229200	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr6:74224400-74225200	Genic enhancers	Duodenum Mucosa	Duodenum
38	chr6:74224400-74226000	Weak transcription	Small Intestine	intestine
39	chr6:74224400-74227000	Strong transcription	Placenta	Placenta
40	chr6:74224400-74228400	Genic enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:74224400-74228400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr6:74224600-74225200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:74224600-74225200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:74224600-74225200	Strong transcription	Liver	Liver
45	chr6:74224600-74225200	Enhancers	Brain Angular Gyrus	brain
46	chr6:74224600-74225200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr6:74224600-74225400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr6:74224600-74225600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:74224600-74225600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:74224600-74225800	Genic enhancers	Duodenum Smooth Muscle	Duodenum

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