Variant report

Variant	rs9352000
Chromosome Location	chr6:74161801-74161802
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74160479..74164788-chr6:74167921..74174562,8	MCF-7	breast:
2	chr6:74160323..74161865-chr6:74226774..74228460,2	MCF-7	breast:
3	chr6:74160901..74161886-chr7:2442873..2443394,3	Hela-S3	cervix:
4	chr6:74160192..74161982-chr6:74293563..74295247,2	MCF-7	breast:
5	chr6:74161775..74163563-chr6:74231007..74233412,2	MCF-7	breast:
6	chr6:74161054..74162803-chr6:74170149..74171814,3	K562	blood:
7	chr6:74157393..74162572-chr6:74229200..74231801,6	MCF-7	breast:
8	chr6:74102482..74106495-chr6:74159619..74163030,5	MCF-7	breast:
9	chr3:49066258..49066868-chr6:74160953..74161952,2	Hela-S3	cervix:
10	chr14:64971613..64972260-chr6:74161468..74162284,2	Hela-S3	cervix:
11	6:74000304-74012200..6:74160392-74184826	K562	blood:
12	chr6:74160549..74162466-chr6:74170605..74172336,2	MCF-7	breast:
13	chr6:74159742..74161867-chr6:74173139..74174851,2	MCF-7	breast:
14	chr6:74153322..74156894-chr6:74159948..74162165,3	MCF-7	breast:
15	chr6:74161054..74162803-chr6:74170149..74171792,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203907	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000207023	Chromatin interaction
ENSG00000272434	Chromatin interaction
ENSG00000136213	Chromatin interaction
ENSG00000234882	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000178035	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000229862	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12198468	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1245345	0.93[ASN][1000 genomes]
rs1390080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1713862	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2643196	0.90[ASN][1000 genomes]
rs28576277	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs371827	0.89[JPT][hapmap]
rs4708060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs479248	1.00[JPT][hapmap]
rs516203	0.93[ASN][1000 genomes]
rs523883	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs535902	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs541178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs606263	1.00[JPT][hapmap]
rs608026	0.93[ASN][1000 genomes]
rs621493	0.90[ASN][1000 genomes]
rs625478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs649909	0.84[ASN][1000 genomes]
rs654973	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs658475	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs674708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs679272	1.00[ASN][1000 genomes]
rs6907936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749897	0.93[ASN][1000 genomes]
rs780062	1.00[JPT][hapmap]
rs9293930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9341424	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9352002	0.93[ASN][1000 genomes]
rs9352007	0.93[ASN][1000 genomes]
rs9360689	0.93[ASN][1000 genomes]
rs9446904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951332	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9352000	MTO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74157800-74162200	Active TSS	GM12878-XiMat	blood
2	chr6:74158600-74162600	Active TSS	Hela-S3	cervix
3	chr6:74159000-74162200	Active TSS	Duodenum Mucosa	Duodenum
4	chr6:74159200-74162000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:74159200-74162400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:74159400-74162200	Active TSS	Colonic Mucosa	Colon
7	chr6:74159400-74162400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:74159600-74162000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:74159600-74162200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:74159600-74162200	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr6:74159600-74162400	Active TSS	A549	lung
12	chr6:74159800-74162200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:74159800-74162200	Active TSS	Rectal Smooth Muscle	rectum
14	chr6:74159800-74162400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:74160000-74162200	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr6:74160000-74162200	Flanking Active TSS	Fetal Thymus	thymus
17	chr6:74160200-74162000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:74160200-74162200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:74160200-74162200	Active TSS	Fetal Lung	lung
20	chr6:74160200-74162200	Active TSS	Stomach Mucosa	stomach
21	chr6:74160200-74162200	Active TSS	NHLF	lung
22	chr6:74160200-74162400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr6:74160200-74162400	Active TSS	Brain Hippocampus Middle	brain
24	chr6:74160200-74162400	Active TSS	Right Atrium	heart
25	chr6:74160200-74162400	Active TSS	NHDF-Ad	bronchial
26	chr6:74160200-74162600	Active TSS	HSMM	muscle
27	chr6:74160200-74162600	Active TSS	Osteobl	bone
28	chr6:74160400-74162000	Active TSS	Primary T cells from cord blood	blood
29	chr6:74160400-74162000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr6:74160400-74162000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:74160400-74162000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:74160400-74162200	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr6:74160400-74162200	Active TSS	Lung	lung
34	chr6:74160400-74162400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:74160400-74162400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:74160400-74162400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr6:74160400-74162400	Active TSS	Esophagus	oesophagus
38	chr6:74160600-74162000	Active TSS	Aorta	Aorta
39	chr6:74160600-74162200	Active TSS	Ovary	ovary
40	chr6:74160600-74162400	Active TSS	HSMMtube	muscle
41	chr6:74160800-74162000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr6:74160800-74162000	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr6:74160800-74162000	Flanking Active TSS	Liver	Liver
44	chr6:74160800-74162000	Active TSS	Brain Substantia Nigra	brain
45	chr6:74160800-74162000	Active TSS	Small Intestine	intestine
46	chr6:74160800-74162200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr6:74160800-74162200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:74160800-74162200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr6:74160800-74162200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:74160800-74162200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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