Variant report

Variant	rs11264333
Chromosome Location	chr1:155108287-155108288
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	SIN3A	chr1:155107464-155108938	H1-hESC	embryonic stem cell:	n/a	chr1:155107530-155107544 chr1:155108543-155108551 chr1:155108544-155108553
2	POLR2A	chr1:155107437-155108984	K562	blood:	n/a	n/a
3	POLR2A	chr1:155106405-155108990	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:155107550-155108911	K562	blood:	n/a	n/a
5	STAT3	chr1:155107450-155108380	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr1:155107122-155109023	ECC-1	luminal epithelium:	n/a	chr1:155108662-155108672 chr1:155108649-155108659
7	UBTF	chr1:155107550-155108930	K562	blood:	n/a	n/a
8	TAF1	chr1:155107413-155108994	PFSK-1	brain:	n/a	n/a
9	RFX5	chr1:155107443-155108517	Hela-S3	cervix:	n/a	chr1:155107740-155107755
10	POLR2A	chr1:155107686-155108897	GM12878	blood:	n/a	n/a
11	ZNF263	chr1:155107383-155108898	HEK293-T-REx	kidney:	n/a	n/a
12	YY1	chr1:155107980-155108572	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr1:155107487-155109006	MCF-7	breast:	n/a	n/a
14	HCFC1	chr1:155106158-155109044	Hela-S3	cervix:	n/a	n/a
15	SIN3AK20	chr1:155107430-155108924	SK-N-SH	brain:	n/a	n/a
16	TAL1	chr1:155107512-155108594	K562	blood:	n/a	n/a
17	CTCF	chr1:155108240-155108390	GM12865	blood:	n/a	n/a
18	YY1	chr1:155108135-155108793	GM12891	blood:	n/a	chr1:155108664-155108673 chr1:155108651-155108660
19	GTF2F1	chr1:155107451-155108487	Hela-S3	cervix:	n/a	n/a
20	MAX	chr1:155107626-155108882	GM12878	blood:	n/a	chr1:155108662-155108672 chr1:155108649-155108659
21	POLR2A	chr1:155107011-155108947	MCF10A-Er-Src	breast:	n/a	n/a
22	NFATC1	chr1:155107533-155108965	GM12878	blood:	n/a	n/a
23	GABPA	chr1:155107573-155108454	K562	blood:	n/a	n/a
24	POLR2A	chr1:155107570-155108606	SK-N-MC	brain:	n/a	n/a
25	ZBTB7A	chr1:155107949-155109005	ECC-1	luminal epithelium:	n/a	n/a
26	GABPA	chr1:155107941-155108428	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr1:155107835-155108700	H1-neurons	neurons:	n/a	n/a
28	ELK1	chr1:155107857-155108379	K562	blood:	n/a	n/a
29	MAX	chr1:155107425-155108962	K562	blood:	n/a	chr1:155108662-155108672 chr1:155108649-155108659
30	POLR2A	chr1:155107489-155108956	HEK293	kidney:	n/a	n/a
31	MAX	chr1:155106879-155109024	HCT-116	colon:	n/a	chr1:155108662-155108672 chr1:155108649-155108659
32	CEBPD	chr1:155107470-155108705	HepG2	liver:	n/a	n/a
33	CTCF	chr1:155108260-155108410	GM06990	blood:	n/a	n/a
34	RCOR1	chr1:155107454-155108885	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr1:155107584-155108594	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:155107516-155108640	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr1:155105642-155108644	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:155107560-155108993	K562	blood:	n/a	n/a
39	REST	chr1:155107479-155109079	H1-neurons	neurons:	n/a	chr1:155108544-155108554
40	MXI1	chr1:155107488-155108677	K562	blood:	n/a	n/a
41	CTCF	chr1:155108240-155108390	GM12869	blood:	n/a	n/a
42	CTCF	chr1:155108260-155108410	HCFaa	heart:	n/a	n/a
43	RAD21	chr1:155107898-155108609	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr1:155108280-155108430	NHLF	lung:	n/a	n/a
45	POLR2A	chr1:155107609-155108980	GM18951	blood:	n/a	n/a
46	SP1	chr1:155107176-155109051	HCT-116	colon:	n/a	chr1:155108290-155108299 chr1:155107715-155107728 chr1:155108272-155108281 chr1:155108664-155108674 chr1:155108663-155108675 chr1:155107690-155107699 chr1:155108291-155108300 chr1:155107688-155107700 chr1:155108270-155108282 chr1:155108289-155108301 chr1:155108654-155108668 chr1:155107586-155107596 chr1:155108664-155108674 chr1:155108660-155108674 chr1:155107689-155107698 chr1:155107688-155107700 chr1:155108663-155108675 chr1:155108270-155108282 chr1:155108665-155108674 chr1:155108664-155108673 chr1:155108289-155108301 chr1:155107689-155107699 chr1:155107689-155107698 chr1:155108665-155108674 chr1:155108271-155108280 chr1:155108291-155108300 chr1:155108737-155108751
47	POLR2A	chr1:155107317-155108983	HUVEC	blood vessel:	n/a	n/a
48	TEAD4	chr1:155107379-155108563	K562	blood:	n/a	n/a
49	POLR2A	chr1:155105844-155108967	HepG2	liver:	n/a	n/a
50	POLR2A	chr1:155107386-155109028	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:43833180..43833849-chr1:155108064..155108709,2	Hela-S3	cervix:
2	chr1:155106788..155108939-chr1:155162594..155164354,3	MCF-7	breast:
3	chr1:155107712..155108600-chrX:153628474..153628986,2	Hela-S3	cervix:
4	chr1:155107108..155109934-chr1:155145596..155147858,3	K562	blood:
5	chr1:155107788..155108431-chr2:88315437..88316101,2	Hela-S3	cervix:
6	chr1:155049589..155073019-chr1:155085330..155115362,149	MCF-7	breast:
7	chr1:155095314..155110392-chr1:155134312..155151496,72	MCF-7	breast:
8	chr1:28836376..28836991-chr1:155107686..155108480,2	Hela-S3	cervix:
9	chr1:155108054..155108889-chr7:43965640..43966431,2	Hela-S3	cervix:
10	chr1:155106609..155109409-chr1:155161242..155164268,3	MCF-7	breast:
11	chr1:155108077..155108863-chr3:119813775..119814280,2	Hela-S3	cervix:
12	chr1:155107240..155110079-chr19:1260703..1263497,2	MCF-7	breast:
13	chr1:150120710..150123122-chr1:155106674..155108306,2	MCF-7	breast:
14	chr1:155034568..155037098-chr1:155106619..155109204,2	MCF-7	breast:
15	chr1:155057100..155058028-chr1:155107427..155108298,2	Hela-S3	cervix:
16	chr1:155107931..155108549-chr17:80250591..80251313,2	Hela-S3	cervix:
17	chr1:155107803..155108655-chr9:130213220..130214059,2	Hela-S3	cervix:
18	chr1:155107909..155108648-chr17:41465245..41466181,2	Hela-S3	cervix:
19	chr1:155107680..155108415-chr7:99102514..99103388,2	Hela-S3	cervix:
20	chr1:155107455..155110019-chr1:155221050..155223424,2	MCF-7	breast:
21	chr1:155107745..155108441-chr16:69165927..69166598,2	Hela-S3	cervix:
22	chr1:154943143..154945562-chr1:155107346..155109732,2	MCF-7	breast:
23	chr1:155107938..155108614-chr7:32534863..32535638,2	Hela-S3	cervix:
24	chr1:41157392..41157964-chr1:155107878..155108644,2	Hela-S3	cervix:
25	chr1:155052471..155058946-chr1:155106509..155113930,10	K562	blood:
26	chr1:155107729..155108614-chr3:19988180..19988972,2	Hela-S3	cervix:
27	chr1:155107955..155108699-chr17:56708616..56709450,2	Hela-S3	cervix:
28	chr1:155107880..155108584-chr20:33680266..33680919,2	Hela-S3	cervix:
29	chr1:155107839..155108619-chr6:44214686..44215386,2	Hela-S3	cervix:
30	chr1:155106208..155110263-chr1:155170377..155171955,3	K562	blood:
31	chr1:155021141..155023874-chr1:155106998..155108549,2	MCF-7	breast:
32	chr1:155105664..155110180-chr1:155143584..155151850,15	MCF-7	breast:
33	chr1:155106165..155110704-chr1:155161873..155165835,8	K562	blood:
34	chr1:155105295..155110704-chr1:155161873..155165835,7	K562	blood:
35	chr1:155106166..155110794-chr1:155110873..155115238,14	K562	blood:
36	chr1:155107108..155109985-chr1:155144527..155147858,5	K562	blood:
37	chr1:154973938..154977904-chr1:155106692..155109973,4	MCF-7	breast:
38	chr1:155106515..155109128-chr1:155196131..155198130,2	K562	blood:
39	chr1:155048313..155051843-chr1:155107968..155110316,3	K562	blood:
40	chr1:110577205..110577736-chr1:155108163..155108890,2	Hela-S3	cervix:

Variant related genes	Relation type
SLC50A1	TF binding region
ENSG00000207165	Chromatin interaction
ENSG00000272145	Chromatin interaction
ENSG00000143093	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000163576	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000144566	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000106355	Chromatin interaction
ENSG00000196652	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000066322	Chromatin interaction
ENSG00000105778	Chromatin interaction
ENSG00000265692	Chromatin interaction
ENSG00000099622	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000066136	Chromatin interaction
ENSG00000168802	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000106608	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000251246	Chromatin interaction
ENSG00000141076	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000148356	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000100991	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000078967	Chromatin interaction
ENSG00000231064	Chromatin interaction
ENSG00000179085	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000163463	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000243364	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10157801	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11264327	0.83[EUR][1000 genomes]
rs11799962	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11807418	0.80[EUR][1000 genomes]
rs12028043	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12124306	0.85[EUR][1000 genomes]
rs12127609	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12137164	0.81[EUR][1000 genomes]
rs12145362	0.83[EUR][1000 genomes]
rs12904	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34257409	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4246529	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4276913	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4390169	1.00[ASN][1000 genomes]
rs4745	1.00[ASN][1000 genomes]
rs4971054	0.83[EUR][1000 genomes]
rs4971059	0.81[AMR][1000 genomes]
rs4971066	0.85[ASN][1000 genomes]
rs4971073	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4971076	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4971079	0.94[ASN][1000 genomes]
rs4971093	0.84[AMR][1000 genomes]
rs6676150	0.89[ASN][1000 genomes]
rs7364524	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7366138	0.82[EUR][1000 genomes]
rs9297	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv998756	chr1:155080090-155136545	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
6	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
7	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
8	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11264333	GBAP1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155106800-155109000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:155107000-155109400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:155107200-155108600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
4	chr1:155107200-155108800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr1:155107200-155109600	Flanking Active TSS	Fetal Muscle Leg	muscle
6	chr1:155107400-155109000	Active TSS	Ovary	ovary
7	chr1:155107400-155109200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:155107400-155109200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr1:155107400-155109400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:155107400-155109400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:155107400-155109400	Active TSS	Aorta	Aorta
12	chr1:155107400-155109400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:155107400-155109400	Flanking Active TSS	Placenta	Placenta
14	chr1:155107400-155109800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:155107400-155109800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:155107400-155110600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:155107600-155108400	Transcr. at gene 5' and 3'	Right Atrium	heart
18	chr1:155107600-155108800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr1:155107600-155108800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:155107600-155109200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:155107600-155109200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:155107600-155109200	Active TSS	Primary T cells from cord blood	blood
23	chr1:155107600-155109200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:155107600-155109200	Active TSS	Esophagus	oesophagus
25	chr1:155107600-155109200	Active TSS	Left Ventricle	heart
26	chr1:155107600-155109200	Active TSS	Psoas Muscle	Psoas
27	chr1:155107600-155109200	Active TSS	Rectal Smooth Muscle	rectum
28	chr1:155107600-155109400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:155107600-155109400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:155107600-155109400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:155107600-155109400	Active TSS	Colon Smooth Muscle	Colon
32	chr1:155107600-155109400	Active TSS	Fetal Kidney	kidney
33	chr1:155107600-155109400	Active TSS	NHLF	lung
34	chr1:155107600-155109600	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:155107600-155109600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:155107600-155109800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:155107600-155110000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:155107800-155108400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:155107800-155108800	Active TSS	Brain Anterior Caudate	brain
40	chr1:155107800-155108800	Active TSS	Fetal Brain Male	brain
41	chr1:155107800-155108800	Active TSS	Spleen	Spleen
42	chr1:155107800-155109200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:155107800-155109200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:155107800-155109200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:155107800-155109200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:155107800-155109200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:155107800-155109200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:155107800-155109200	Active TSS	Liver	Liver
49	chr1:155107800-155109200	Active TSS	Brain Germinal Matrix	brain
50	chr1:155107800-155109200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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