Variant report

Variant	rs371827
Chromosome Location	chr6:74295221-74295222
allele	C/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74288220..74292842-chr6:74293561..74299022,14	K562	blood:
2	chr6:74160192..74161982-chr6:74293563..74295247,2	MCF-7	breast:
3	chr6:74222337..74233828-chr6:74292949..74298961,33	K562	blood:
4	chr6:74293866..74296330-chr6:74299032..74301515,2	K562	blood:
5	chr6:74224085..74235157-chr6:74287002..74297560,44	MCF-7	breast:
6	chr6:74274687..74279711-chr6:74293912..74296161,4	K562	blood:
7	chr6:74220978..74235626-chr6:74283533..74299827,68	K562	blood:
8	chr6:74294343..74296557-chr6:74348201..74349804,2	MCF-7	breast:
9	chr6:74274336..74276665-chr6:74293923..74295499,2	K562	blood:
10	chr6:74294601..74296941-chr6:74314591..74316170,2	K562	blood:
11	chr6:74293523..74296291-chr6:74302711..74304704,2	K562	blood:
12	chr6:74293673..74296243-chr6:74316721..74319519,2	MCF-7	breast:
13	chr6:74230261..74231013-chr6:74295028..74295700,2	Hela-S3	cervix:
14	chr6:74287590..74292040-chr6:74293648..74296536,4	MCF-7	breast:
15	chr6:74295192..74295831-chr7:5565833..5566704,2	NB4	blood:
16	chr6:74223949..74234010-chr6:74285694..74297775,46	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156508	Chromatin interaction
ENSG00000229862	Chromatin interaction

Extended variants
information (count: 169 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1083740	0.90[EUR][1000 genomes]
rs1083741	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12177538	0.81[EUR][1000 genomes]
rs12198468	0.89[JPT][hapmap]
rs1245279	0.96[EUR][1000 genomes]
rs1245344	1.00[EUR][1000 genomes]
rs1245348	0.83[ASN][1000 genomes]
rs1390080	0.89[JPT][hapmap]
rs16883973	0.84[EUR][1000 genomes]
rs16883979	0.81[EUR][1000 genomes]
rs1691341	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1691342	0.84[EUR][1000 genomes]
rs1691349	0.88[EUR][1000 genomes]
rs1691352	0.84[EUR][1000 genomes]
rs1691353	0.84[EUR][1000 genomes]
rs1703461	0.83[EUR][1000 genomes]
rs1703465	0.81[EUR][1000 genomes]
rs1703466	0.81[EUR][1000 genomes]
rs1713862	0.89[JPT][hapmap]
rs1741886	0.81[EUR][1000 genomes]
rs1741893	0.84[EUR][1000 genomes]
rs1741894	0.84[EUR][1000 genomes]
rs1741895	1.00[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs1848523	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1874231	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1972073	0.84[EUR][1000 genomes]
rs2643196	0.81[EUR][1000 genomes]
rs2753184	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs364734	1.00[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs3757108	1.00[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs4079357	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4708060	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs472294	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs472300	0.84[EUR][1000 genomes]
rs473078	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs473921	0.84[EUR][1000 genomes]
rs474661	0.81[EUR][1000 genomes]
rs476838	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs477431	0.96[EUR][1000 genomes]
rs477820	0.84[EUR][1000 genomes]
rs478503	0.84[EUR][1000 genomes]
rs479248	1.00[CEU][hapmap];0.88[JPT][hapmap];0.96[EUR][1000 genomes]
rs485349	0.81[EUR][1000 genomes]
rs487490	0.81[EUR][1000 genomes]
rs490454	0.83[EUR][1000 genomes]
rs493068	0.81[EUR][1000 genomes]
rs494807	0.86[EUR][1000 genomes]
rs494841	0.83[EUR][1000 genomes]
rs504477	0.81[EUR][1000 genomes]
rs506157	0.81[EUR][1000 genomes]
rs506262	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs518566	0.81[EUR][1000 genomes]
rs520589	0.81[EUR][1000 genomes]
rs523883	0.89[JPT][hapmap]
rs525041	0.81[EUR][1000 genomes]
rs525044	0.81[EUR][1000 genomes]
rs527606	0.81[EUR][1000 genomes]
rs534211	0.81[EUR][1000 genomes]
rs535902	0.89[JPT][hapmap]
rs537379	1.00[EUR][1000 genomes]
rs540197	0.84[EUR][1000 genomes]
rs541178	0.89[JPT][hapmap]
rs543642	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs555151	0.84[EUR][1000 genomes]
rs555286	0.84[EUR][1000 genomes]
rs555957	0.81[EUR][1000 genomes]
rs558641	0.81[EUR][1000 genomes]
rs558839	0.81[EUR][1000 genomes]
rs559843	0.84[EUR][1000 genomes]
rs562557	0.81[EUR][1000 genomes]
rs564364	0.81[EUR][1000 genomes]
rs567200	0.83[EUR][1000 genomes]
rs567727	0.84[EUR][1000 genomes]
rs568422	0.81[EUR][1000 genomes]
rs570050	0.84[EUR][1000 genomes]
rs572147	0.84[EUR][1000 genomes]
rs580531	0.81[EUR][1000 genomes]
rs583149	0.81[EUR][1000 genomes]
rs584571	0.81[EUR][1000 genomes]
rs588852	0.84[EUR][1000 genomes]
rs592752	0.84[EUR][1000 genomes]
rs595884	0.81[EUR][1000 genomes]
rs596414	0.81[EUR][1000 genomes]
rs598121	0.88[EUR][1000 genomes]
rs60551677	0.86[EUR][1000 genomes]
rs605857	0.94[EUR][1000 genomes]
rs606263	1.00[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs606742	0.84[EUR][1000 genomes]
rs606793	0.84[EUR][1000 genomes]
rs607132	0.84[EUR][1000 genomes]
rs607667	0.84[EUR][1000 genomes]
rs608557	0.88[EUR][1000 genomes]
rs609439	0.81[EUR][1000 genomes]
rs609790	0.81[EUR][1000 genomes]
rs609829	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs610260	0.81[EUR][1000 genomes]
rs611580	0.81[EUR][1000 genomes]
rs622967	0.83[EUR][1000 genomes]
rs623310	0.84[EUR][1000 genomes]
rs625086	0.81[EUR][1000 genomes]
rs625478	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs628732	1.00[EUR][1000 genomes]
rs636166	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs636605	0.81[EUR][1000 genomes]
rs639256	0.84[EUR][1000 genomes]
rs6453684	0.81[EUR][1000 genomes]
rs651981	0.84[EUR][1000 genomes]
rs653781	0.84[EUR][1000 genomes]
rs654973	1.00[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs656748	0.81[EUR][1000 genomes]
rs657212	0.81[EUR][1000 genomes]
rs658475	0.89[JPT][hapmap]
rs673176	0.81[EUR][1000 genomes]
rs673511	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs674482	0.81[EUR][1000 genomes]
rs674708	0.89[JPT][hapmap]
rs674938	0.81[EUR][1000 genomes]
rs674988	0.84[EUR][1000 genomes]
rs674989	0.81[EUR][1000 genomes]
rs676704	0.81[EUR][1000 genomes]
rs677073	0.81[EUR][1000 genomes]
rs678054	0.81[EUR][1000 genomes]
rs680391	0.81[EUR][1000 genomes]
rs685491	0.81[EUR][1000 genomes]
rs686317	0.81[EUR][1000 genomes]
rs687210	0.81[EUR][1000 genomes]
rs6907936	0.89[JPT][hapmap]
rs6930178	0.81[EUR][1000 genomes]
rs6930465	0.84[EUR][1000 genomes]
rs6940526	0.81[EUR][1000 genomes]
rs6940706	0.81[EUR][1000 genomes]
rs6940886	0.81[EUR][1000 genomes]
rs71542212	0.81[EUR][1000 genomes]
rs73454523	0.84[EUR][1000 genomes]
rs7747069	0.81[EUR][1000 genomes]
rs7758825	0.81[EUR][1000 genomes]
rs7759157	0.81[EUR][1000 genomes]
rs7764560	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7764983	0.81[EUR][1000 genomes]
rs780062	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs780063	0.96[EUR][1000 genomes]
rs780069	0.92[EUR][1000 genomes]
rs780070	0.98[EUR][1000 genomes]
rs903515	0.84[EUR][1000 genomes]
rs9293930	0.89[JPT][hapmap]
rs9293933	0.81[EUR][1000 genomes]
rs9341424	0.89[JPT][hapmap]
rs9352000	0.89[JPT][hapmap]
rs9446947	0.81[EUR][1000 genomes]
rs9446949	0.84[EUR][1000 genomes]
rs9446952	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9446953	0.81[EUR][1000 genomes]
rs9446954	0.81[EUR][1000 genomes]
rs9446955	0.81[EUR][1000 genomes]
rs9446957	0.81[EUR][1000 genomes]
rs9446958	0.81[EUR][1000 genomes]
rs9446961	0.81[EUR][1000 genomes]
rs9446962	0.81[EUR][1000 genomes]
rs9446966	0.81[EUR][1000 genomes]
rs9446973	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
9	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs371827	MTO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74288000-74296000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:74289400-74302200	Weak transcription	Spleen	Spleen
3	chr6:74289400-74304000	Weak transcription	Right Ventricle	heart
4	chr6:74289600-74309600	Weak transcription	Lung	lung
5	chr6:74289600-74323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:74289800-74301400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:74290600-74305800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:74290600-74318400	Weak transcription	Small Intestine	intestine
9	chr6:74290600-74338800	Weak transcription	Ovary	ovary
10	chr6:74291000-74295800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:74291000-74307200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:74291000-74315800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:74291000-74323600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:74293800-74295400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:74294800-74295400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:74294800-74295400	Enhancers	Primary hematopoietic stem cells	blood
17	chr6:74294800-74295400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:74294800-74295400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:74294800-74295400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:74294800-74295400	Enhancers	Fetal Thymus	thymus
21	chr6:74294800-74295600	Active TSS	Colon Smooth Muscle	Colon
22	chr6:74294800-74295600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:74294800-74295800	Enhancers	Stomach Mucosa	stomach
24	chr6:74294800-74296200	Enhancers	Colonic Mucosa	Colon
25	chr6:74294800-74296400	Enhancers	Pancreas	Pancrea
26	chr6:74294800-74296600	Enhancers	Fetal Intestine Small	intestine
27	chr6:74294800-74296600	Flanking Active TSS	GM12878-XiMat	blood
28	chr6:74295000-74295400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:74295000-74295400	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr6:74295000-74295400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr6:74295000-74295400	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr6:74295000-74295600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:74295000-74295600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:74295000-74296000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:74295000-74296000	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr6:74295000-74296000	Flanking Active TSS	HMEC	breast
37	chr6:74295000-74296200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr6:74295000-74296200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr6:74295000-74296200	Flanking Active TSS	HSMMtube	muscle
40	chr6:74295000-74296400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:74295000-74296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:74295000-74296400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr6:74295000-74296400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr6:74295000-74296400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:74295000-74296400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:74295000-74296400	Active TSS	Aorta	Aorta
47	chr6:74295000-74296400	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr6:74295000-74296400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr6:74295000-74296400	Flanking Active TSS	HUVEC	blood vessel
50	chr6:74295000-74296400	Flanking Active TSS	K562	blood

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