Variant report

Variant	rs9333378
Chromosome Location	chr1:165601466-165601467
allele	A/G
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	CEBPB	chr1:165601466-165601670	K562	blood:	n/a	n/a
2	JUND	chr1:165599729-165601691	K562	blood:	n/a	chr1:165601294-165601301 chr1:165601292-165601301 chr1:165601130-165601140 chr1:165601292-165601302 chr1:165601292-165601302
3	FOS	chr1:165599857-165601558	HUVEC	blood vessel:	n/a	chr1:165601294-165601301 chr1:165601292-165601301 chr1:165601130-165601140 chr1:165601292-165601302 chr1:165601291-165601302 chr1:165601292-165601302
4	BRCA1	chr1:165601074-165601651	Hela-S3	cervix:	n/a	n/a
5	FOS	chr1:165601090-165601830	MCF10A-Er-Src	breast:	n/a	chr1:165601294-165601301 chr1:165601292-165601301 chr1:165601130-165601140 chr1:165601292-165601302 chr1:165601291-165601302 chr1:165601292-165601302 chr1:165601697-165601708
6	POLR2A	chr1:165600822-165601584	Hela-S3	cervix:	n/a	n/a
7	ZNF263	chr1:165599801-165601616	HEK293-T-REx	kidney:	n/a	n/a
8	MAZ	chr1:165599482-165601556	K562	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
9	CEBPB	chr1:165600853-165601649	IMR90	lung:	n/a	n/a
10	RCOR1	chr1:165599665-165601710	Hela-S3	cervix:	n/a	n/a
11	MAX	chr1:165601066-165601555	K562	blood:	n/a	n/a
12	MYC	chr1:165601135-165601729	MCF10A-Er-Src	breast:	n/a	n/a
13	NFIC	chr1:165601030-165601526	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:165599494-165601603	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:165600837-165601565	Hela-S3	cervix:	n/a	n/a
16	FOXM1	chr1:165600947-165601470	GM12878	blood:	n/a	n/a
17	MXI1	chr1:165598861-165601697	SK-N-SH	brain:	n/a	n/a
18	FOS	chr1:165601025-165601662	MCF10A-Er-Src	breast:	n/a	chr1:165601294-165601301 chr1:165601292-165601301 chr1:165601130-165601140 chr1:165601292-165601302 chr1:165601291-165601302 chr1:165601292-165601302
19	MYC	chr1:165599562-165601677	Hela-S3	cervix:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
20	TFAP2C	chr1:165599700-165601723	Hela-S3	cervix:	n/a	chr1:165600451-165600466 chr1:165601477-165601492 chr1:165601459-165601474
21	ELF1	chr1:165601182-165601802	MCF-7	breast:	n/a	n/a
22	MAX	chr1:165600824-165601569	SK-N-SH	brain:	n/a	n/a
23	MXI1	chr1:165599516-165601730	IMR90	lung:	n/a	n/a
24	POLR2A	chr1:165599430-165601655	K562	blood:	n/a	n/a
25	MAFK	chr1:165600976-165601555	K562	blood:	n/a	n/a
26	JUN	chr1:165599850-165601825	K562	blood:	n/a	chr1:165601294-165601301 chr1:165601292-165601301 chr1:165601130-165601140 chr1:165601292-165601302 chr1:165601292-165601302 chr1:165601697-165601708
27	FOSL1	chr1:165600848-165601762	HCT-116	colon:	n/a	chr1:165601294-165601301 chr1:165601292-165601301 chr1:165601130-165601140 chr1:165601292-165601302 chr1:165601292-165601302 chr1:165601697-165601708 chr1:165601291-165601302
28	POLR2A	chr1:165601062-165601523	U87	brain:	n/a	n/a
29	SIN3AK20	chr1:165601037-165601507	SK-N-SH	brain:	n/a	n/a
30	EP300	chr1:165599817-165601651	K562	blood:	n/a	chr1:165601292-165601301
31	ZMIZ1	chr1:165599755-165601574	K562	blood:	n/a	n/a
32	MAZ	chr1:165599616-165601608	Hela-S3	cervix:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
33	POLR2A	chr1:165599846-165601628	IMR90	lung:	n/a	n/a
34	BHLHE40	chr1:165600859-165601470	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:165599781-165601666	PBDE	blood:	n/a	n/a
36	FOSL1	chr1:165601011-165601558	K562	blood:	n/a	chr1:165601294-165601301 chr1:165601292-165601301 chr1:165601130-165601140 chr1:165601292-165601302 chr1:165601292-165601302 chr1:165601291-165601302
37	ELK1	chr1:165601261-165601663	Hela-S3	cervix:	n/a	n/a
38	STAT3	chr1:165601141-165601522	Hela-S3	cervix:	n/a	chr1:165601293-165601302
39	ELK1	chr1:165601374-165601523	K562	blood:	n/a	n/a
40	SMARCB1	chr1:165599424-165601617	Hela-S3	cervix:	n/a	n/a
41	NRF1	chr1:165599750-165601531	SK-N-SH	brain:	n/a	chr1:165600082-165600093 chr1:165600082-165600091 chr1:165600081-165600092 chr1:165600079-165600093
42	RAD21	chr1:165600934-165601491	IMR90	lung:	n/a	n/a
43	MAX	chr1:165601072-165601638	MCF-7	breast:	n/a	n/a
44	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
45	EP300	chr1:165601188-165601730	Hela-S3	cervix:	n/a	chr1:165601292-165601301
46	POLR2A	chr1:165599418-165601655	Hela-S3	cervix:	n/a	n/a
47	STAT3	chr1:165601211-165601490	MCF10A-Er-Src	breast:	n/a	chr1:165601293-165601302
48	STAT3	chr1:165601241-165601597	MCF10A-Er-Src	breast:	n/a	chr1:165601293-165601302
49	ZNF143	chr1:165599921-165601650	Hela-S3	cervix:	n/a	n/a
50	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

No.	Distal block	Cell Line	Cell type
1	chr1:165600483..165602839-chr1:165648702..165651325,2	K562	blood:
2	chr1:165598732..165600312-chr1:165601060..165603402,2	MCF-7	breast:
3	chr1:165597575..165602245-chr1:165617678..165620274,4	K562	blood:
4	chr1:165599737..165602284-chr1:165666440..165669733,4	K562	blood:
5	chr1:165601421..165603432-chr1:165737509..165739117,2	K562	blood:
6	chr1:165598557..165602218-chr1:165613054..165616011,3	K562	blood:
7	chr1:165600033..165602839-chr1:165649825..165652028,2	K562	blood:
8	chr1:165600029..165602046-chr1:165667210..165669353,5	K562	blood:

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

Extended variants
information (count: 17 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10800117	0.84[ASN][1000 genomes]
rs11799886	1.00[JPT][hapmap]
rs11799903	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11801981	1.00[JPT][hapmap]
rs11806754	1.00[JPT][hapmap]
rs16847487	1.00[JPT][hapmap]
rs16847544	1.00[JPT][hapmap]
rs6682771	1.00[JPT][hapmap]
rs6686643	1.00[JPT][hapmap]
rs6690679	0.83[YRI][hapmap]
rs6693448	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6695758	1.00[JPT][hapmap]
rs7516587	1.00[JPT][hapmap]
rs7554034	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs9333464	1.00[JPT][hapmap]
rs9333471	0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs959617	1.00[JPT][hapmap]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs9333378	FCGR3A	cis	parietal	SCAN
rs9333378	MGST3	cis	lymphoblastoid	seeQTL
rs9333378	MPZL1	cis	parietal	SCAN
rs9333378	USF1	cis	parietal	SCAN
rs9333378	C1orf111	cis	parietal	SCAN
rs9333378	MGST3	cis	Whole Blood	GTEx
rs9333378	TADA1	cis	parietal	SCAN
rs9333378	MGST3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165599000-165601600	Active TSS	A549	lung
2	chr1:165599000-165601800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:165599000-165602000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:165599000-165602000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:165599000-165602000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:165599000-165602000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr1:165599200-165601600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:165599200-165601600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:165599200-165601600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:165599200-165601800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:165599200-165601800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:165599200-165602200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:165599200-165602200	Active TSS	NHDF-Ad	bronchial
14	chr1:165599200-165602200	Active TSS	NHLF	lung
15	chr1:165599200-165603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:165599400-165601600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:165599400-165601600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:165599400-165601600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:165599400-165601600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:165599400-165601600	Active TSS	Stomach Mucosa	stomach
21	chr1:165599400-165601800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:165599400-165601800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr1:165599400-165601800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:165599400-165601800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:165599400-165601800	Active TSS	Fetal Kidney	kidney
26	chr1:165599400-165602000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:165599400-165602000	Active TSS	Colonic Mucosa	Colon
28	chr1:165599400-165602200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:165599400-165602400	Active TSS	Ovary	ovary
30	chr1:165599400-165602400	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:165599400-165602600	Active TSS	Right Ventricle	heart
32	chr1:165599400-165602800	Active TSS	Left Ventricle	heart
33	chr1:165599400-165602800	Active TSS	Psoas Muscle	Psoas
34	chr1:165599400-165603000	Active TSS	Aorta	Aorta
35	chr1:165599400-165603000	Active TSS	Brain Cingulate Gyrus	brain
36	chr1:165599400-165603200	Active TSS	Right Atrium	heart
37	chr1:165599600-165601600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:165599600-165601600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:165599600-165601600	Active TSS	Placenta Amnion	Placenta Amnion
40	chr1:165599600-165601800	Active TSS	Fetal Intestine Large	intestine
41	chr1:165599600-165601800	Active TSS	Lung	lung
42	chr1:165599600-165602000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:165599600-165602000	Active TSS	Fetal Heart	heart
44	chr1:165599600-165602000	Active TSS	Rectal Smooth Muscle	rectum
45	chr1:165599600-165602200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:165599600-165602400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:165599800-165601600	Active TSS	Gastric	stomach
48	chr1:165600000-165601600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:165600000-165602000	Active TSS	Fetal Intestine Small	intestine
50	chr1:165600600-165601600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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