Variant report

Variant	rs7536276
Chromosome Location	chr1:220960915-220960916
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	NFYA	chr1:220960668-220961028	Hela-S3	cervix:	n/a	n/a
2	USF1	chr1:220960630-220960970	A549	lung:	n/a	n/a
3	MAX	chr1:220959764-220960971	HepG2	liver:	n/a	n/a
4	TEAD4	chr1:220960710-220961084	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:220959533-220961147	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr1:220959720-220961010	Hela-S3	cervix:	n/a	n/a
7	USF1	chr1:220960632-220960998	A549	lung:	n/a	n/a
8	HA-E2F1	chr1:220959917-220960915	Hela-S3	cervix:	n/a	chr1:220960125-220960134 chr1:220960572-220960581 chr1:220960574-220960583 chr1:220960156-220960165 chr1:220960776-220960790
9	GTF2F1	chr1:220960541-220961129	Hela-S3	cervix:	n/a	n/a
10	USF1	chr1:220960637-220960962	HepG2	liver:	n/a	n/a
11	HEY1	chr1:220959476-220961035	HepG2	liver:	n/a	n/a
12	USF1	chr1:220960540-220961035	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr1:220959942-220960965	NB4	blood:	n/a	n/a
14	MAX	chr1:220959476-220961100	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:220958619-220961999	Hela-S3	cervix:	n/a	n/a
16	E2F4	chr1:220960643-220960956	MCF10A-Er-Src	breast:	n/a	chr1:220960776-220960790
17	POLR2A	chr1:220959565-220961053	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:220960403-220960922	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr1:220959792-220961085	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:220959941-220961110	ECC-1	luminal epithelium:	n/a	n/a
21	USF2	chr1:220960662-220961007	H1-hESC	embryonic stem cell:	n/a	chr1:220960823-220960834
22	POLR2A	chr1:220960501-220960988	HCT-116	colon:	n/a	n/a
23	TFAP2C	chr1:220959558-220961112	Hela-S3	cervix:	n/a	n/a
24	TCF7L2	chr1:220959780-220962626	Hela-S3	cervix:	n/a	n/a
25	USF1	chr1:220960629-220960999	A549	lung:	n/a	n/a
26	USF1	chr1:220960576-220960976	SK-N-SH_RA	brain:	n/a	n/a
27	MAX	chr1:220960449-220960954	MCF-7	breast:	n/a	n/a
28	USF1	chr1:220960472-220961217	HCT-116	colon:	n/a	n/a
29	POLR2A	chr1:220960649-220960982	HCT-116	colon:	n/a	n/a
30	MAX	chr1:220959909-220961037	ECC-1	luminal epithelium:	n/a	n/a
31	USF1	chr1:220960698-220960963	SK-N-SH_RA	brain:	n/a	n/a
32	MAX	chr1:220959794-220961136	ECC-1	luminal epithelium:	n/a	n/a
33	RCOR1	chr1:220959660-220961124	Hela-S3	cervix:	n/a	n/a
34	MAX	chr1:220959999-220960961	NB4	blood:	n/a	n/a
35	YY1	chr1:220959453-220960995	HepG2	liver:	n/a	chr1:220960128-220960137 chr1:220959814-220959828 chr1:220959704-220959715 chr1:220960582-220960593 chr1:220960125-220960134 chr1:220959735-220959749
36	USF1	chr1:220960633-220960984	A549	lung:	n/a	n/a
37	POLR2A	chr1:220959944-220961036	MCF-7	breast:	n/a	n/a
38	E2F6	chr1:220960386-220961040	H1-hESC	embryonic stem cell:	n/a	chr1:220960572-220960581 chr1:220960574-220960583 chr1:220960776-220960790
39	SMC3	chr1:220959730-220961069	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:220960553-220960970	HepG2	liver:	n/a	n/a
41	TBP	chr1:220959884-220960985	HepG2	liver:	n/a	n/a
42	YY1	chr1:220960026-220960916	ECC-1	luminal epithelium:	n/a	chr1:220960128-220960137 chr1:220960582-220960593 chr1:220960125-220960134
43	TAF1	chr1:220960502-220961017	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr1:220959843-220961233	Hela-S3	cervix:	n/a	n/a
45	USF1	chr1:220960612-220960941	A549	lung:	n/a	n/a
46	ZEB1	chr1:220959446-220961221	HepG2	liver:	n/a	n/a
47	USF1	chr1:220960626-220961047	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr1:220959908-220961154	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:220959875-220961202	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:220960599-220960939	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:220956529..220963831-chr1:220968712..220974793,12	MCF-7	breast:
2	chr1:220920087..220922800-chr1:220958239..220960991,2	MCF-7	breast:
3	chr1:220932972..220935057-chr1:220960206..220962159,2	MCF-7	breast:
4	chr1:220956374..220960540-chr1:220960774..220963878,4	K562	blood:
5	chr1:220958915..220961807-chr1:220964103..220968214,4	MCF-7	breast:
6	chr1:220443657..220445570-chr1:220960265..220962335,2	MCF-7	breast:
7	chr1:220958940..220961119-chr1:220964763..220966587,2	MCF-7	breast:

Variant related genes	Relation type
MARC1	TF binding region
ENSG00000117791	Chromatin interaction
ENSG00000186205	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10779415	0.82[CEU][hapmap]
rs10863562	0.82[CEU][hapmap]
rs11118597	0.82[CEU][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs11118599	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11118600	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12027850	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12402066	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12562235	0.83[EUR][1000 genomes]
rs12568838	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17008609	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2642424	1.00[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs337147	0.82[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs337148	0.83[CHB][hapmap];0.97[CHD][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs337150	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3795536	0.88[CEU][hapmap]
rs425473	0.82[CEU][hapmap];0.91[CHD][hapmap]
rs4846662	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6657944	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697965	1.00[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs7518916	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7519399	0.84[EUR][1000 genomes]
rs7519414	0.81[ASW][hapmap];1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7539769	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7542648	0.80[ASW][hapmap];1.00[CEU][hapmap];0.81[MEX][hapmap];0.82[EUR][1000 genomes]
rs7542723	0.84[EUR][1000 genomes]
rs7553948	0.83[EUR][1000 genomes]
rs7556458	0.81[ASW][hapmap];1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7556561	0.82[EUR][1000 genomes]
rs9430990	0.82[CEU][hapmap]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7536276	C1orf115	cis	Nerve Tibial	GTEx
rs7536276	IARS2	cis	parietal	SCAN
rs7536276	C1orf115	cis	lymphoblastoid	seeQTL
rs7536276	MOSC2	cis	lymphoblastoid	seeQTL
rs7536276	MOSC2	cis	cerebellum	SCAN
rs7536276	TGFB2	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220959000-220962000	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr1:220959200-220962600	Enhancers	Fetal Brain Male	brain
3	chr1:220959400-220961000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:220959400-220961000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr1:220959400-220961000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:220959400-220961000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:220959400-220961000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr1:220959400-220961000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:220959400-220961200	Active TSS	Brain Anterior Caudate	brain
10	chr1:220959400-220961400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:220959400-220961800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:220959600-220961000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:220959600-220961000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:220959600-220961000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:220959600-220961000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:220959600-220961000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:220959600-220961000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:220959600-220961000	Active TSS	Aorta	Aorta
19	chr1:220959600-220961000	Flanking Active TSS	Ovary	ovary
20	chr1:220959600-220961200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr1:220959600-220961200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:220959600-220961200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:220959600-220961200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:220959600-220961400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:220959600-220961400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:220959600-220961400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:220959600-220961400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:220959600-220961400	Active TSS	Brain Angular Gyrus	brain
29	chr1:220959600-220961400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:220959600-220961600	Active TSS	HepG2	liver
31	chr1:220959600-220961800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:220959800-220961000	Active TSS	Brain Cingulate Gyrus	brain
33	chr1:220959800-220961000	Active TSS	Brain Substantia Nigra	brain
34	chr1:220959800-220961000	Active TSS	Fetal Kidney	kidney
35	chr1:220959800-220961000	Active TSS	Gastric	stomach
36	chr1:220959800-220961000	Active TSS	Pancreas	Pancrea
37	chr1:220959800-220961000	Active TSS	Right Atrium	heart
38	chr1:220959800-220961000	Active TSS	Right Ventricle	heart
39	chr1:220959800-220961000	Flanking Active TSS	Osteobl	bone
40	chr1:220959800-220961200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:220959800-220961600	Active TSS	Brain Germinal Matrix	brain
42	chr1:220959800-220961600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:220959800-220961800	Active TSS	Rectal Smooth Muscle	rectum
44	chr1:220960000-220961000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:220960000-220961000	Active TSS	Fetal Intestine Small	intestine
46	chr1:220960000-220961000	Bivalent/Poised TSS	NHEK	skin
47	chr1:220960000-220961000	Active TSS	NHLF	lung
48	chr1:220960000-220961400	Active TSS	H1 Cell Line	embryonic stem cell
49	chr1:220960000-220961600	Active TSS	Fetal Brain Female	brain
50	chr1:220960000-220961600	Active TSS	Rectal Mucosa Donor 29	rectum

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