Variant report

Variant	rs628732
Chromosome Location	chr6:74288351-74288352
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74288220..74292842-chr6:74293561..74299022,14	K562	blood:
2	chr6:74224085..74235157-chr6:74287002..74297560,44	MCF-7	breast:
3	chr6:74287302..74289966-chr6:74361696..74364056,2	MCF-7	breast:
4	chr6:74273534..74278713-chr6:74287099..74290342,5	K562	blood:
5	chr6:74287590..74292040-chr6:74293648..74296536,4	MCF-7	breast:
6	chr6:74220978..74235626-chr6:74283533..74299827,68	K562	blood:
7	chr6:74288307..74290175-chr6:74362549..74365093,2	K562	blood:
8	chr6:74287356..74290171-chr6:74314710..74316586,2	MCF-7	breast:
9	chr6:74273534..74277710-chr6:74287099..74290160,5	K562	blood:
10	chr6:74284448..74288356-chr6:74288794..74290756,3	K562	blood:
11	chr6:74286237..74288439-chr6:74291393..74292991,3	K562	blood:
12	chr6:74222492..74235445-chr6:74283533..74292948,42	K562	blood:
13	chr6:74223949..74234010-chr6:74285694..74297775,46	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229862	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000119899	Chromatin interaction

Extended variants
information (count: 157 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs1083740	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1083741	0.96[EUR][1000 genomes]
rs12177538	0.81[EUR][1000 genomes]
rs1245279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1245344	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16883973	0.84[EUR][1000 genomes]
rs16883979	0.81[EUR][1000 genomes]
rs1691341	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]
rs1741886	0.81[EUR][1000 genomes]
rs1741893	0.84[EUR][1000 genomes]
rs1741894	0.84[EUR][1000 genomes]
rs1741895	0.84[EUR][1000 genomes]
rs1848523	0.82[EUR][1000 genomes]
rs1874231	0.84[EUR][1000 genomes]
rs1972073	0.84[EUR][1000 genomes]
rs2643196	0.81[EUR][1000 genomes]
rs2753184	0.85[EUR][1000 genomes]
rs364734	0.88[EUR][1000 genomes]
rs371827	1.00[EUR][1000 genomes]
rs3757108	0.88[EUR][1000 genomes]
rs4079357	0.84[EUR][1000 genomes]
rs472294	0.88[EUR][1000 genomes]
rs472300	0.84[EUR][1000 genomes]
rs473078	0.84[EUR][1000 genomes]
rs473921	0.84[EUR][1000 genomes]
rs474661	0.81[EUR][1000 genomes]
rs476838	0.84[EUR][1000 genomes]
rs477431	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs477820	0.84[EUR][1000 genomes]
rs478503	0.84[EUR][1000 genomes]
rs479248	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][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	0.88[EUR][1000 genomes]
rs518566	0.81[EUR][1000 genomes]
rs520589	0.81[EUR][1000 genomes]
rs525041	0.81[EUR][1000 genomes]
rs525044	0.81[EUR][1000 genomes]
rs527606	0.81[EUR][1000 genomes]
rs534211	0.81[EUR][1000 genomes]
rs537379	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs540197	0.84[EUR][1000 genomes]
rs543642	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];0.91[ASN][1000 genomes]
rs606263	0.94[EUR][1000 genomes];0.91[ASN][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	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	0.88[EUR][1000 genomes]
rs636166	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	0.90[EUR][1000 genomes]
rs656748	0.81[EUR][1000 genomes]
rs657212	0.81[EUR][1000 genomes]
rs673176	0.81[EUR][1000 genomes]
rs673511	0.81[EUR][1000 genomes]
rs674482	0.81[EUR][1000 genomes]
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]
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	0.81[EUR][1000 genomes]
rs7764983	0.81[EUR][1000 genomes]
rs780062	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs780063	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs780069	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs780070	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs903515	0.84[EUR][1000 genomes]
rs9293933	0.81[EUR][1000 genomes]
rs9446947	0.81[EUR][1000 genomes]
rs9446949	0.84[EUR][1000 genomes]
rs9446952	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:11 , 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	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
9	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
10	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
11	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
rs628732	MTO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74277200-74288600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:74278200-74288600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:74281200-74288800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:74281200-74289000	Weak transcription	Psoas Muscle	Psoas
5	chr6:74285000-74289000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:74285400-74289200	Weak transcription	Small Intestine	intestine
7	chr6:74287000-74289600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:74287200-74289200	Enhancers	A549	lung
9	chr6:74287200-74289400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:74287200-74289600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:74287200-74289600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:74287200-74289600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:74287200-74289800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:74287200-74289800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:74287200-74289800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:74287200-74290000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:74287200-74290800	Enhancers	Fetal Heart	heart
18	chr6:74287400-74288400	Enhancers	Fetal Intestine Large	intestine
19	chr6:74287400-74288600	Enhancers	Adipose Nuclei	Adipose
20	chr6:74287400-74289000	Enhancers	Hela-S3	cervix
21	chr6:74287400-74289000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr6:74287400-74289200	Enhancers	HepG2	liver
23	chr6:74287400-74289200	Enhancers	NHDF-Ad	bronchial
24	chr6:74287400-74289200	Enhancers	NHLF	lung
25	chr6:74287400-74289600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:74287400-74289600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:74287400-74290000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:74287400-74290000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:74287400-74290000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:74287400-74290000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:74287400-74290000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:74287400-74290200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:74287400-74290400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:74287400-74290400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:74287600-74288400	Weak transcription	Fetal Kidney	kidney
36	chr6:74287600-74288600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:74287600-74289000	Weak transcription	Stomach Mucosa	stomach
38	chr6:74287600-74289600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:74287600-74290000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:74287600-74290000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:74287600-74290000	Enhancers	Fetal Intestine Small	intestine
42	chr6:74287600-74290200	Enhancers	Liver	Liver
43	chr6:74287800-74288400	Weak transcription	NH-A	brain
44	chr6:74287800-74288600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:74287800-74288600	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:74287800-74288600	Weak transcription	Osteobl	bone
47	chr6:74287800-74288800	Weak transcription	Right Atrium	heart
48	chr6:74287800-74289000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:74287800-74289000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:74287800-74289200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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