Variant report

Variant	rs10918223
Chromosome Location	chr1:165599649-165599650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr1:165599491-165600711	H1-hESC	embryonic stem cell:	n/a	chr1:165599538-165599550 chr1:165600079-165600086 chr1:165599560-165599574 chr1:165600079-165600086 chr1:165600083-165600092 chr1:165599680-165599689 chr1:165600079-165600086 chr1:165600425-165600435
2	BHLHE40	chr1:165599454-165600628	HepG2	liver:	n/a	chr1:165600559-165600575
3	MAX	chr1:165599339-165600843	ECC-1	luminal epithelium:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
4	MAZ	chr1:165599482-165601556	K562	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
5	POLR2A	chr1:165598911-165600810	SK-N-MC	brain:	n/a	n/a
6	MAX	chr1:165599480-165600820	ECC-1	luminal epithelium:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
7	E2F6	chr1:165599293-165599824	K562	blood:	n/a	chr1:165599538-165599550 chr1:165599560-165599574 chr1:165599680-165599689
8	BHLHE40	chr1:165599622-165600640	GM12878	blood:	n/a	chr1:165600559-165600575
9	MAX	chr1:165599354-165600852	HepG2	liver:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
10	TCF7L2	chr1:165599391-165600682	HCT-116	colon:	n/a	chr1:165599758-165599768 chr1:165599756-165599772 chr1:165599756-165599772 chr1:165599759-165599768
11	MAZ	chr1:165599566-165601374	GM12878	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
12	MAX	chr1:165599368-165600823	K562	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
13	POLR2A	chr1:165599611-165600783	K562	blood:	n/a	n/a
14	POLR2A	chr1:165599494-165601603	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr1:165598861-165601697	SK-N-SH	brain:	n/a	n/a
16	MYC	chr1:165599562-165601677	Hela-S3	cervix:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
17	MXI1	chr1:165599516-165601730	IMR90	lung:	n/a	n/a
18	MYC	chr1:165599488-165600806	K562	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
19	E2F6	chr1:165599308-165600743	K562	blood:	n/a	chr1:165599538-165599550 chr1:165600079-165600086 chr1:165599560-165599574 chr1:165600079-165600086 chr1:165600083-165600092 chr1:165599680-165599689 chr1:165600079-165600086 chr1:165600425-165600435
20	POLR2A	chr1:165599430-165601655	K562	blood:	n/a	n/a
21	MAX	chr1:165599523-165600749	MCF-7	breast:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
22	POLR2A	chr1:165599530-165600769	MCF-7	breast:	n/a	n/a
23	TCF12	chr1:165599604-165600800	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr1:165599489-165600722	MCF10A-Er-Src	breast:	n/a	n/a
25	MAX	chr1:165599516-165600712	H1-hESC	embryonic stem cell:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
26	E2F6	chr1:165599392-165600630	H1-hESC	embryonic stem cell:	n/a	chr1:165599538-165599550 chr1:165600079-165600086 chr1:165599560-165599574 chr1:165600079-165600086 chr1:165600083-165600092 chr1:165599680-165599689 chr1:165600079-165600086 chr1:165600425-165600435
27	ZNF384	chr1:165599310-165600821	K562	blood:	n/a	n/a
28	MYC	chr1:165599611-165600733	K562	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
29	CEBPB	chr1:165599390-165600521	K562	blood:	n/a	chr1:165599495-165599508
30	MAZ	chr1:165599616-165601608	Hela-S3	cervix:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
31	MAX	chr1:165599640-165600963	GM12878	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
32	E2F6	chr1:165599520-165600564	A549	lung:	n/a	chr1:165599538-165599550 chr1:165600079-165600086 chr1:165599560-165599574 chr1:165600079-165600086 chr1:165600083-165600092 chr1:165599680-165599689 chr1:165600079-165600086 chr1:165600425-165600435
33	TCF12	chr1:165599645-165600546	ECC-1	luminal epithelium:	n/a	n/a
34	SMARCB1	chr1:165599424-165601617	Hela-S3	cervix:	n/a	n/a
35	E2F6	chr1:165599363-165600623	K562	blood:	n/a	chr1:165599538-165599550 chr1:165600079-165600086 chr1:165599560-165599574 chr1:165600079-165600086 chr1:165600083-165600092 chr1:165599680-165599689 chr1:165600079-165600086 chr1:165600425-165600435
36	MAX	chr1:165599390-165600271	K562	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
37	JUN	chr1:165598443-165602604	K562	blood:	n/a	chr1:165601294-165601301 chr1:165601292-165601301 chr1:165601130-165601140 chr1:165601292-165601302 chr1:165599593-165599602 chr1:165601292-165601302 chr1:165601697-165601708 chr1:165599071-165599085
38	POLR2A	chr1:165599605-165600728	K562	blood:	n/a	n/a
39	POLR2A	chr1:165599241-165600721	K562	blood:	n/a	n/a
40	POLR2A	chr1:165599418-165601655	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr1:165599515-165600706	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr1:165599592-165600702	PFSK-1	brain:	n/a	n/a
43	TAF1	chr1:165599548-165600781	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:165599046-165600751	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr1:165599647-165600386	H1-hESC	embryonic stem cell:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
46	POLR2A	chr1:165599454-165600877	Hela-S3	cervix:	n/a	n/a
47	JUND	chr1:165599204-165602182	SK-N-SH	brain:	n/a	chr1:165601294-165601301 chr1:165601292-165601301 chr1:165601130-165601140 chr1:165601292-165601302 chr1:165599593-165599602 chr1:165601292-165601302 chr1:165601697-165601708
48	POLR2A	chr1:165599583-165600708	ECC-1	luminal epithelium:	n/a	n/a
49	MYC	chr1:165599281-165601529	K562	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
50	POLR2A	chr1:165599329-165601076	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:165599603-165599653	BE2_C	brain:	n/a
2	chr1:165599603-165599653	PFSK-1	brain:	n/a
3	chr1:165599603-165599653	RPTEC	kidney:	n/a
4	chr1:165599603-165599653	BJ	skin:	n/a
5	chr1:165599603-165599653	SK-N-SH	brain:	n/a
6	chr1:165599603-165599653	LNCaP	prostate:	n/a
7	chr1:165599603-165599653	ProgFib	skin:	n/a
8	chr1:165599603-165599653	HRPEpiC	eye:	n/a
9	chr1:165599603-165599653	HRE	kidney:	n/a
10	chr1:165599603-165599653	GM19239	blood:	n/a
11	chr1:165599603-165599653	AG04449	skin:	fetal
12	chr1:165599603-165599653	AG09319	gingival:	n/a
13	chr1:165599603-165599653	GM12878	blood:	n/a
14	chr1:165599603-165599653	Hepatocyte	liver:	n/a
15	chr1:165599603-165599653	HCM	heart:	n/a
16	chr1:165599603-165599653	SK-N-MC	brain:	n/a
17	chr1:165599603-165599653	MCF10A-Er-Src	breast:	n/a
18	chr1:165599603-165599653	SAEC	small airway:	n/a
19	chr1:165599603-165599653	H1-hESC	embryonic stem cell:	embryo
20	chr1:165599603-165599653	Jurkat	blood:	n/a
21	chr1:165599603-165599653	U87	brain:	n/a
22	chr1:165599603-165599653	AG04450	lung:	fetal
23	chr1:165599603-165599653	HCF	heart:	n/a
24	chr1:165599603-165599653	SKMC	muscle:	n/a
25	chr1:165599603-165599653	GM12892	blood:	n/a
26	chr1:165599603-165599653	NT2-D1	testis:	n/a
27	chr1:165599603-165599653	ECC-1	luminal epithelium:	n/a
28	chr1:165599603-165599653	NH-A	brain:	n/a
29	chr1:165599603-165599653	HepG2	liver:	n/a
30	chr1:165599603-165599653	ovcar-3	ovarian:	n/a
31	chr1:165599603-165599653	PrEC	prostate:	n/a
32	chr1:165599603-165599653	K562	blood:	n/a
33	chr1:165599603-165599653	HRCEpiC	kidney:	n/a
34	chr1:165599603-165599653	T-47D	breast:	n/a
35	chr1:165599603-165599653	MCF-7	breast:	n/a
36	chr1:165599603-165599653	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:165599603-165599653	SK-N-SH_RA	brain:	n/a
38	chr1:165599603-165599653	A549	lung:	n/a
39	chr1:165599603-165599653	NHBE	bronchial:	n/a
40	chr1:165599603-165599653	HUVEC	blood vessel:	n/a
41	chr1:165599603-165599653	NHDF-neo	bronchial:	n/a
42	chr1:165599603-165599653	HIPEpiC	eye:	n/a
43	chr1:165599603-165599653	HAEpiC	amniotic membrane:	n/a
44	chr1:165599603-165599653	Hela-S3	cervix:	n/a
45	chr1:165599603-165599653	GM12891	blood:	n/a
46	chr1:165599603-165599653	PANC-1	pancreas:	n/a
47	chr1:165599603-165599653	HEK293	kidney:	embryo
48	chr1:165599603-165599653	HMEC	breast:	n/a
49	chr1:165599603-165599653	AoSMC	blood vessel:	n/a
50	chr1:165599603-165599653	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:165598732..165600312-chr1:165601060..165603402,2	MCF-7	breast:
2	chr1:165598510..165600017-chr1:165872095..165874763,2	K562	blood:
3	chr1:165599477..165601110-chr1:165618354..165620160,2	K562	blood:
4	chr1:165598675..165601057-chr1:165860826..165863471,2	K562	blood:
5	chr1:165597760..165600070-chr1:165736723..165738244,2	K562	blood:
6	chr1:165599643..165601355-chr1:165666069..165669053,3	MCF-7	breast:
7	chr1:165597575..165602245-chr1:165617678..165620274,4	K562	blood:
8	chr1:165598109..165601268-chr1:165795469..165798298,3	MCF-7	breast:
9	chr1:165598557..165602218-chr1:165613054..165616011,3	K562	blood:

Variant related genes	Relation type
MGST3	TF binding region
MGST3	CpG island
ENSG00000143183	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000143149	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10733045	0.93[ASN][1000 genomes]
rs10737515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147591	0.88[ASN][1000 genomes]
rs4147592	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4147593	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4147594	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4147595	0.87[ASN][1000 genomes]
rs4147596	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6694924	0.89[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10918223	MGST3	Cis_1M	lymphoblastoid	RTeQTL
rs10918223	MGST3	cis	Whole Blood	GTEx
rs10918223	MGST3	cis	Esophagus Mucosa	GTEx
rs10918223	MGST3	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165598400-165600800	Active TSS	Fetal Brain Male	brain
2	chr1:165599000-165601400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:165599000-165601400	Active TSS	Brain Angular Gyrus	brain
4	chr1:165599000-165601600	Active TSS	A549	lung
5	chr1:165599000-165601800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:165599000-165602000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:165599000-165602000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:165599000-165602000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:165599000-165602000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:165599200-165599800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr1:165599200-165600000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:165599200-165600200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:165599200-165601200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:165599200-165601400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:165599200-165601400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:165599200-165601400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:165599200-165601400	Active TSS	Brain Anterior Caudate	brain
18	chr1:165599200-165601400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:165599200-165601400	Active TSS	Osteobl	bone
20	chr1:165599200-165601600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:165599200-165601600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:165599200-165601600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:165599200-165601800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:165599200-165601800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:165599200-165602200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:165599200-165602200	Active TSS	NHDF-Ad	bronchial
27	chr1:165599200-165602200	Active TSS	NHLF	lung
28	chr1:165599200-165603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:165599400-165599800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:165599400-165599800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr1:165599400-165600000	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr1:165599400-165600000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr1:165599400-165600000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:165599400-165600200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr1:165599400-165600200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:165599400-165600400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr1:165599400-165600400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:165599400-165600800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr1:165599400-165601400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:165599400-165601400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr1:165599400-165601400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:165599400-165601400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:165599400-165601400	Active TSS	Colon Smooth Muscle	Colon
44	chr1:165599400-165601400	Active TSS	Placenta	Placenta
45	chr1:165599400-165601400	Active TSS	Pancreas	Pancrea
46	chr1:165599400-165601400	Active TSS	HSMMtube	muscle
47	chr1:165599400-165601600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:165599400-165601600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr1:165599400-165601600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:165599400-165601600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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