Variant report

Variant	rs9333376
Chromosome Location	chr1:165601109-165601110
allele	G/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	CTCF	chr1:165601080-165601230	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr1:165601080-165601230	GM12874	blood:	n/a	n/a
3	JUND	chr1:165599729-165601691	K562	blood:	n/a	chr1:165601294-165601301 chr1:165601292-165601301 chr1:165601130-165601140 chr1:165601292-165601302 chr1:165601292-165601302
4	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
5	POLR2A	chr1:165601086-165601379	HCT-116	colon:	n/a	n/a
6	RAD21	chr1:165600994-165601375	SK-N-SH_RA	brain:	n/a	n/a
7	TAF1	chr1:165601052-165601445	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr1:165601074-165601651	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr1:165601100-165601250	GM12871	blood:	n/a	n/a
10	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
11	POLR2A	chr1:165600822-165601584	Hela-S3	cervix:	n/a	n/a
12	EBF1	chr1:165601055-165601424	GM12878	blood:	n/a	n/a
13	ZNF263	chr1:165599801-165601616	HEK293-T-REx	kidney:	n/a	n/a
14	ZNF143	chr1:165599863-165601392	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr1:165600980-165601130	HVMF	connective:	n/a	n/a
16	MAZ	chr1:165599482-165601556	K562	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
17	CEBPB	chr1:165600853-165601649	IMR90	lung:	n/a	n/a
18	CTCF	chr1:165601080-165601230	HCFaa	heart:	n/a	n/a
19	RCOR1	chr1:165599665-165601710	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:165600944-165601416	SK-N-SH	brain:	n/a	n/a
21	CCNT2	chr1:165599835-165601392	K562	blood:	n/a	n/a
22	MAX	chr1:165601066-165601555	K562	blood:	n/a	n/a
23	CTCF	chr1:165601040-165601190	SAEC	small airway:	n/a	n/a
24	NFIC	chr1:165601030-165601526	GM12878	blood:	n/a	n/a
25	MAZ	chr1:165599566-165601374	GM12878	blood:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
26	CTCF	chr1:165600981-165601412	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:165599494-165601603	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:165600837-165601565	Hela-S3	cervix:	n/a	n/a
29	FOXM1	chr1:165600947-165601470	GM12878	blood:	n/a	n/a
30	MXI1	chr1:165598861-165601697	SK-N-SH	brain:	n/a	n/a
31	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
32	MYC	chr1:165599562-165601677	Hela-S3	cervix:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
33	TFAP2C	chr1:165599700-165601723	Hela-S3	cervix:	n/a	chr1:165600451-165600466 chr1:165601477-165601492 chr1:165601459-165601474
34	MAX	chr1:165600824-165601569	SK-N-SH	brain:	n/a	n/a
35	MXI1	chr1:165599516-165601730	IMR90	lung:	n/a	n/a
36	POLR2A	chr1:165599430-165601655	K562	blood:	n/a	n/a
37	MAFK	chr1:165600976-165601555	K562	blood:	n/a	n/a
38	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
39	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
40	REST	chr1:165600967-165601385	K562	blood:	n/a	n/a
41	POLR2A	chr1:165601062-165601523	U87	brain:	n/a	n/a
42	CTCF	chr1:165601100-165601250	AG09309	skin:	n/a	n/a
43	SIN3AK20	chr1:165601037-165601507	SK-N-SH	brain:	n/a	n/a
44	RAD21	chr1:165601095-165601367	K562	blood:	n/a	n/a
45	EP300	chr1:165599817-165601651	K562	blood:	n/a	chr1:165601292-165601301
46	ZMIZ1	chr1:165599755-165601574	K562	blood:	n/a	n/a
47	MAZ	chr1:165599616-165601608	Hela-S3	cervix:	n/a	chr1:165600026-165600035 chr1:165599681-165599691
48	CTCF	chr1:165601080-165601230	HFF-Myc	foreskin:	n/a	n/a
49	POLR2A	chr1:165599846-165601628	IMR90	lung:	n/a	n/a
50	BHLHE40	chr1:165600859-165601470	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:165599477..165601110-chr1:165618354..165620160,2	K562	blood:
2	chr1:165600483..165602839-chr1:165648702..165651325,2	K562	blood:
3	chr1:165598732..165600312-chr1:165601060..165603402,2	MCF-7	breast:
4	chr1:165599775..165601444-chr1:165795750..165798255,2	K562	blood:
5	chr1:165599643..165601355-chr1:165666069..165669053,3	MCF-7	breast:
6	chr1:165597575..165602245-chr1:165617678..165620274,4	K562	blood:
7	chr1:165599737..165602284-chr1:165666440..165669733,4	K562	blood:
8	chr1:165598109..165601268-chr1:165795469..165798298,3	MCF-7	breast:
9	chr1:165600481..165601208-chr8:17013484..17014169,2	Hela-S3	cervix:
10	chr1:165598557..165602218-chr1:165613054..165616011,3	K562	blood:
11	chr1:165600033..165602839-chr1:165649825..165652028,2	K562	blood:
12	chr1:165600029..165602046-chr1:165667210..165669353,5	K562	blood:

Variant related genes	Relation type
MGST3	TF binding region
ENSG00000143179	Chromatin interaction
ENSG00000104219	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000143149	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1590578	1.00[EUR][1000 genomes]
rs16846009	1.00[EUR][1000 genomes]
rs16846680	1.00[EUR][1000 genomes]
rs1981167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4290038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6701006	1.00[JPT][hapmap]
rs72696036	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7527279	1.00[JPT][hapmap]
rs9333367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9333389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9333391	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9333393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9333394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9333397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9333405	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9333414	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333417	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333424	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333425	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333427	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333430	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333434	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333435	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333437	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9333472	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165599000-165601400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:165599000-165601400	Active TSS	Brain Angular Gyrus	brain
3	chr1:165599000-165601600	Active TSS	A549	lung
4	chr1:165599000-165601800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:165599000-165602000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:165599000-165602000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:165599000-165602000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:165599000-165602000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr1:165599200-165601200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:165599200-165601400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:165599200-165601400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:165599200-165601400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:165599200-165601400	Active TSS	Brain Anterior Caudate	brain
14	chr1:165599200-165601400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:165599200-165601400	Active TSS	Osteobl	bone
16	chr1:165599200-165601600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:165599200-165601600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:165599200-165601600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:165599200-165601800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:165599200-165601800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:165599200-165602200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:165599200-165602200	Active TSS	NHDF-Ad	bronchial
23	chr1:165599200-165602200	Active TSS	NHLF	lung
24	chr1:165599200-165603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:165599400-165601400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:165599400-165601400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:165599400-165601400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:165599400-165601400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:165599400-165601400	Active TSS	Colon Smooth Muscle	Colon
30	chr1:165599400-165601400	Active TSS	Placenta	Placenta
31	chr1:165599400-165601400	Active TSS	Pancreas	Pancrea
32	chr1:165599400-165601400	Active TSS	HSMMtube	muscle
33	chr1:165599400-165601600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:165599400-165601600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr1:165599400-165601600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr1:165599400-165601600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:165599400-165601600	Active TSS	Stomach Mucosa	stomach
38	chr1:165599400-165601800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:165599400-165601800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr1:165599400-165601800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:165599400-165601800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:165599400-165601800	Active TSS	Fetal Kidney	kidney
43	chr1:165599400-165602000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:165599400-165602000	Active TSS	Colonic Mucosa	Colon
45	chr1:165599400-165602200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:165599400-165602400	Active TSS	Ovary	ovary
47	chr1:165599400-165602400	Active TSS	Stomach Smooth Muscle	stomach
48	chr1:165599400-165602600	Active TSS	Right Ventricle	heart
49	chr1:165599400-165602800	Active TSS	Left Ventricle	heart
50	chr1:165599400-165602800	Active TSS	Psoas Muscle	Psoas

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