Variant report

Variant	rs2301455
Chromosome Location	chr1:172418268-172418269
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	FOSL2	chr1:172418165-172418580	A549	lung:	n/a	chr1:172418404-172418414 chr1:172418402-172418413 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415
2	ARID3A	chr1:172418036-172419866	HepG2	liver:	n/a	n/a
3	CREB1	chr1:172418216-172418636	A549	lung:	n/a	n/a
4	RAD21	chr1:172418035-172418501	Hela-S3	cervix:	n/a	n/a
5	MAFF	chr1:172418133-172418324	K562	blood:	n/a	n/a
6	HEY1	chr1:172418150-172420083	HepG2	liver:	n/a	n/a
7	JUND	chr1:172418184-172418622	A549	lung:	n/a	chr1:172418404-172418414 chr1:172418403-172418414 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415
8	MXI1	chr1:172418115-172418628	HepG2	liver:	n/a	n/a
9	FOSL2	chr1:172418171-172418679	HepG2	liver:	n/a	chr1:172418404-172418414 chr1:172418402-172418413 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415
10	CREB1	chr1:172418049-172420111	HepG2	liver:	n/a	n/a
11	FOS	chr1:172418244-172418663	HUVEC	blood vessel:	n/a	chr1:172418404-172418414 chr1:172418404-172418414 chr1:172418403-172418414 chr1:172418405-172418413 chr1:172418403-172418415
12	MAX	chr1:172418094-172418628	Hela-S3	cervix:	n/a	n/a
13	FOXA2	chr1:172418225-172418564	HepG2	liver:	n/a	n/a
14	FOSL2	chr1:172417949-172418654	MCF-7	breast:	n/a	chr1:172418404-172418414 chr1:172418402-172418413 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415
15	ZEB1	chr1:172417854-172420270	HepG2	liver:	n/a	chr1:172418210-172418221 chr1:172418038-172418049 chr1:172418471-172418479 chr1:172419031-172419038
16	JUND	chr1:172418130-172418605	HepG2	liver:	n/a	chr1:172418404-172418414 chr1:172418403-172418414 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415
17	NFIC	chr1:172418133-172418712	HepG2	liver:	n/a	n/a
18	TFAP2C	chr1:172417877-172418714	Hela-S3	cervix:	n/a	chr1:172418254-172418269
19	MXI1	chr1:172418137-172418802	Hela-S3	cervix:	n/a	n/a
20	FOXA2	chr1:172418038-172418779	A549	lung:	n/a	n/a
21	HNF4G	chr1:172418243-172418891	HepG2	liver:	n/a	chr1:172418769-172418777 chr1:172418505-172418517 chr1:172418505-172418518 chr1:172418504-172418518 chr1:172418504-172418517
22	MAFK	chr1:172418035-172418595	HepG2	liver:	n/a	chr1:172418197-172418211
23	CHD2	chr1:172418105-172418575	Hela-S3	cervix:	n/a	n/a
24	MAX	chr1:172418247-172420387	HepG2	liver:	n/a	n/a
25	NR2F2	chr1:172417948-172418840	MCF-7	breast:	n/a	n/a
26	ZNF217	chr1:172417931-172418691	MCF-7	breast:	n/a	n/a
27	JUN	chr1:172418141-172418547	HepG2	liver:	n/a	chr1:172418404-172418414 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415
28	POLR2A	chr1:172418157-172420104	HepG2	liver:	n/a	n/a
29	CEBPB	chr1:172418048-172418644	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:172418105-172418706	HepG2	liver:	n/a	n/a
31	RFX5	chr1:172418158-172419608	HepG2	liver:	n/a	n/a
32	FOS	chr1:172418191-172418533	MCF10A-Er-Src	breast:	n/a	chr1:172418404-172418414 chr1:172418404-172418414 chr1:172418403-172418414 chr1:172418405-172418413 chr1:172418403-172418415
33	CTCF	chr1:172417456-172420817	A549	lung:	n/a	chr1:172419229-172419247 chr1:172420251-172420259 chr1:172419777-172419790 chr1:172419234-172419242 chr1:172419231-172419252
34	TCF7L2	chr1:172418154-172418900	MCF-7	breast:	n/a	chr1:172418405-172418414 chr1:172418727-172418736 chr1:172418724-172418740 chr1:172418725-172418739
35	BRCA1	chr1:172418059-172418393	Hela-S3	cervix:	n/a	n/a
36	ELK1	chr1:172418137-172418305	Hela-S3	cervix:	n/a	n/a
37	EP300	chr1:172418201-172419442	HepG2	liver:	n/a	chr1:172418560-172418569 chr1:172419026-172419042
38	EP300	chr1:172418108-172418692	HepG2	liver:	n/a	chr1:172418560-172418569
39	FOS	chr1:172418167-172418559	MCF10A-Er-Src	breast:	n/a	chr1:172418404-172418414 chr1:172418404-172418414 chr1:172418403-172418414 chr1:172418405-172418413 chr1:172418403-172418415
40	FOXA1	chr1:172418187-172418614	HepG2	liver:	n/a	n/a
41	MAFK	chr1:172417920-172418468	Hela-S3	cervix:	n/a	chr1:172418197-172418211
42	TBP	chr1:172418151-172418537	Hela-S3	cervix:	n/a	n/a
43	MYBL2	chr1:172418107-172419993	HepG2	liver:	n/a	n/a
44	USF2	chr1:172417974-172418572	Hela-S3	cervix:	n/a	chr1:172418095-172418106
45	NR2F2	chr1:172417790-172418855	MCF-7	breast:	n/a	n/a
46	EP300	chr1:172418027-172418680	MCF-7	breast:	n/a	chr1:172418560-172418569
47	MYBL2	chr1:172418172-172419894	HepG2	liver:	n/a	n/a
48	FOSL2	chr1:172417950-172419083	A549	lung:	n/a	chr1:172418404-172418414 chr1:172418402-172418413 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415
49	SP1	chr1:172417976-172418811	A549	lung:	n/a	n/a
50	JUND	chr1:172418245-172419711	K562	blood:	n/a	chr1:172418404-172418414 chr1:172418403-172418414 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415

No.	Distal block	Cell Line	Cell type
1	chr1:172406592..172408826-chr1:172417525..172419582,2	K562	blood:
2	chr1:172418092..172419733-chr1:172445872..172448682,2	MCF-7	breast:
3	chr1:172416555..172419141-chr1:172466431..172468171,3	MCF-7	breast:
4	chr1:172418197..172419975-chr1:172480214..172481768,2	MCF-7	breast:
5	chr1:172416845..172420491-chr1:172421660..172424212,3	MCF-7	breast:
6	chr1:172417311..172418961-chr1:172442502..172444312,2	MCF-7	breast:
7	chr1:172416738..172419262-chr1:172481149..172482659,2	MCF-7	breast:
8	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
9	chr1:172417113..172418877-chr1:172464746..172466370,2	MCF-7	breast:
10	chr1:172327243..172328745-chr1:172418219..172419831,2	MCF-7	breast:
11	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
12	chr1:172398735..172400364-chr1:172416893..172418563,2	MCF-7	breast:

Variant related genes	Relation type
C1orf105	TF binding region
ENSG00000180999	Chromatin interaction
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1063412	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10752946	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs10752957	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10798005	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs11484605	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13932	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2157450	0.81[CHB][hapmap]
rs2213740	0.82[CHB][hapmap]
rs2269613	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2269614	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2269615	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2269616	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2285170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2285171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2285172	1.00[ASN][1000 genomes]
rs2285173	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2285174	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2285175	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2285176	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2422141	0.83[ASN][1000 genomes]
rs2901656	0.81[CHB][hapmap]
rs3213563	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3937046	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4916186	0.82[ASN][1000 genomes]
rs4916258	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60302909	0.92[ASN][1000 genomes]
rs6424923	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6658843	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs6673869	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6674073	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6680035	0.81[CHB][hapmap]
rs6689377	1.00[ASN][1000 genomes]
rs6699095	0.82[CHB][hapmap]
rs6702667	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs7411767	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7516301	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs7550016	0.84[CHB][hapmap]
rs9286858	0.82[CHB][hapmap]
rs929098	1.00[ASN][1000 genomes]
rs9425308	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs9425311	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs9425313	0.80[ASN][1000 genomes]
rs9425316	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9425329	0.81[CHB][hapmap]
rs9425334	0.81[CHB][hapmap]
rs9425598	0.96[CEU][hapmap];0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs9425600	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs9425601	0.81[ASN][1000 genomes]
rs9425602	0.80[ASN][1000 genomes]
rs9425604	0.80[ASN][1000 genomes]
rs9425606	0.95[CHB][hapmap];0.82[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2301455	PIGC	cis	Whole Blood	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172413600-172418400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:172413600-172418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:172413600-172418600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:172413600-172418600	Weak transcription	Esophagus	oesophagus
5	chr1:172413600-172418800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:172413600-172418800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:172413600-172418800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:172413600-172418800	Weak transcription	Lung	lung
9	chr1:172413600-172418800	Weak transcription	Small Intestine	intestine
10	chr1:172413600-172419000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:172413600-172419000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:172413600-172419000	Weak transcription	Fetal Thymus	thymus
13	chr1:172413600-172419000	Weak transcription	Right Ventricle	heart
14	chr1:172413600-172419200	Weak transcription	Fetal Heart	heart
15	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:172413800-172418800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:172413800-172418800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:172413800-172418800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:172413800-172418800	Weak transcription	GM12878-XiMat	blood
21	chr1:172413800-172419000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:172413800-172419000	Weak transcription	Primary T cells from cord blood	blood
23	chr1:172413800-172419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:172413800-172419000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:172413800-172419000	Weak transcription	Liver	Liver
26	chr1:172413800-172419000	Weak transcription	Brain Anterior Caudate	brain
27	chr1:172413800-172419000	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:172413800-172419000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:172413800-172419000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:172413800-172419400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:172413800-172419400	Weak transcription	NHDF-Ad	bronchial
32	chr1:172414000-172418400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:172414000-172418800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:172414000-172418800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:172414000-172418800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:172414000-172418800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:172414000-172419000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:172414400-172419200	Weak transcription	Dnd41	blood
39	chr1:172415400-172420000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:172415400-172420400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:172416000-172419000	Weak transcription	Pancreas	Pancrea
42	chr1:172416200-172418600	Enhancers	Fetal Intestine Large	intestine
43	chr1:172416200-172419000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:172416400-172419800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:172416400-172419800	Enhancers	Fetal Intestine Small	intestine
46	chr1:172416400-172420000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:172416400-172420600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:172416400-172420600	Enhancers	HMEC	breast
49	chr1:172416600-172418600	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:172416600-172419400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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