Variant report

Variant	rs12775501
Chromosome Location	chr10:90750909-90750910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:90749843-90751568	U87	brain:	n/a	n/a
2	CTCF	chr10:90750840-90750990	HVMF	connective:	n/a	n/a
3	POLR2A	chr10:90750899-90751285	HCT-116	colon:	n/a	n/a
4	TEAD4	chr10:90749355-90751985	ECC-1	luminal epithelium:	n/a	n/a
5	HEY1	chr10:90750767-90751661	HepG2	liver:	n/a	n/a
6	POLR2A	chr10:90749915-90751407	HL-60	blood:	n/a	n/a
7	BCLAF1	chr10:90749862-90751946	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:90749855-90752124	GM15510	blood:	n/a	n/a
9	SIN3AK20	chr10:90750110-90751867	PANC-1	pancreas:	n/a	n/a
10	EP300	chr10:90750009-90751464	SK-N-SH	brain:	n/a	n/a
11	BCLAF1	chr10:90750845-90752107	GM12878	blood:	n/a	n/a
12	CTCF	chr10:90750840-90750990	AG09319	gingival:	n/a	n/a
13	EP300	chr10:90750895-90751919	GM12878	blood:	n/a	n/a
14	STAT5A	chr10:90750260-90751920	GM12878	blood:	n/a	chr10:90750282-90750294 chr10:90750620-90750628 chr10:90750277-90750289
15	FOXM1	chr10:90750426-90751824	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:90749926-90751974	GM12891	blood:	n/a	n/a
17	POLR2A	chr10:90749854-90751934	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr10:90749866-90751970	GM12878	blood:	n/a	n/a
19	PML	chr10:90749912-90752008	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:90750038-90752039	GM12891	blood:	n/a	n/a
21	TCF12	chr10:90749391-90751818	ECC-1	luminal epithelium:	n/a	chr10:90750157-90750167
22	POLR2A	chr10:90749872-90752061	GM12892	blood:	n/a	n/a
23	CTCF	chr10:90750900-90751050	HPF	lung:	n/a	n/a
24	CEBPB	chr10:90749654-90750974	A549	lung:	n/a	chr10:90749915-90749926
25	MXI1	chr10:90749572-90751342	Hela-S3	cervix:	n/a	n/a
26	MAX	chr10:90749410-90751872	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr10:90749801-90752335	GM12878	blood:	n/a	n/a
28	ZNF143	chr10:90750897-90751322	GM12878	blood:	n/a	n/a
29	POLR2A	chr10:90749923-90752668	GM12878	blood:	n/a	n/a
30	POLR2A	chr10:90749949-90751434	HL-60	blood:	n/a	n/a
31	CEBPB	chr10:90749496-90751276	IMR90	lung:	n/a	chr10:90749915-90749926
32	CTBP2	chr10:90750029-90751845	H1-hESC	embryonic stem cell:	n/a	n/a
33	HA-E2F1	chr10:90750046-90751876	MCF-7	breast:	n/a	n/a
34	SMARCB1	chr10:90749936-90751664	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr10:90749839-90751807	Hela-S3	cervix:	n/a	n/a
36	TAF1	chr10:90750882-90751384	GM12892	blood:	n/a	n/a
37	REST	chr10:90749980-90751440	HL-60	blood:	n/a	chr10:90750302-90750316 chr10:90750541-90750554
38	MAX	chr10:90749576-90751963	GM12878	blood:	n/a	n/a
39	POU2F2	chr10:90750868-90751311	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:90749923-90752114	GM12892	blood:	n/a	n/a
41	EGR1	chr10:90750881-90751332	ECC-1	luminal epithelium:	n/a	chr10:90751130-90751144
42	POLR2A	chr10:90750447-90751102	H1-hESC	embryonic stem cell:	n/a	n/a
43	HMGN3	chr10:90750779-90751277	K562	blood:	n/a	n/a
44	POLR2A	chr10:90749504-90754868	MCF10A-Er-Src	breast:	n/a	n/a
45	CTCF	chr10:90750900-90751050	HRE	kidney:	n/a	n/a
46	EP300	chr10:90749243-90752016	ECC-1	luminal epithelium:	n/a	n/a
47	ZBTB7A	chr10:90749920-90751398	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr10:90750146-90751426	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr10:90749936-90752305	GM12892	blood:	n/a	n/a
50	POLR2A	chr10:90749941-90751916	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:90750898-90750948	BJ	skin:	n/a
2	chr10:90750898-90750948	HRE	kidney:	n/a
3	chr10:90750898-90750948	MCF-7	breast:	n/a
4	chr10:90750898-90750948	HCF	heart:	n/a
5	chr10:90750898-90750948	NH-A	brain:	n/a
6	chr10:90750898-90750948	HUVEC	blood vessel:	n/a
7	chr10:90750898-90750948	GM19239	blood:	n/a
8	chr10:90750898-90750948	HPAEpiC	pulmonary alveolar:	n/a
9	chr10:90750898-90750948	HL-60	blood:	n/a
10	chr10:90750898-90750948	LNCaP	prostate:	n/a
11	chr10:90750898-90750948	ovcar-3	ovarian:	n/a
12	chr10:90750898-90750948	HRPEpiC	eye:	n/a
13	chr10:90750898-90750948	GM06990	blood:	n/a
14	chr10:90750898-90750948	NT2-D1	testis:	n/a
15	chr10:90750898-90750948	NB4	blood:	n/a
16	chr10:90750898-90750948	HMEC	breast:	n/a
17	chr10:90750898-90750948	IMR90	lung:	fetal
18	chr10:90750898-90750948	HAEpiC	amniotic membrane:	n/a
19	chr10:90750898-90750948	GM12892	blood:	n/a
20	chr10:90750898-90750948	AG10803	skin:	n/a
21	chr10:90750898-90750948	ProgFib	skin:	n/a
22	chr10:90750898-90750948	K562	blood:	n/a
23	chr10:90750898-90750948	U87	brain:	n/a
24	chr10:90750898-90750948	MCF10A-Er-Src	breast:	n/a
25	chr10:90750898-90750948	SK-N-MC	brain:	n/a
26	chr10:90750898-90750948	SAEC	small airway:	n/a
27	chr10:90750898-90750948	HCM	heart:	n/a
28	chr10:90750898-90750948	SK-N-SH_RA	brain:	n/a
29	chr10:90750898-90750948	Caco-2	colon:	n/a
30	chr10:90750898-90750948	AG09319	gingival:	n/a
31	chr10:90750898-90750948	HEEpiC	esophagus:	n/a
32	chr10:90750898-90750948	HCPEpiC	choroid plexus:	n/a
33	chr10:90750898-90750948	GM12891	blood:	n/a
34	chr10:90750898-90750948	PrEC	prostate:	n/a
35	chr10:90750898-90750948	GM12878	blood:	n/a
36	chr10:90750898-90750948	NHDF-neo	bronchial:	n/a
37	chr10:90750898-90750948	H1-hESC	embryonic stem cell:	embryo
38	chr10:90750898-90750948	AoSMC	blood vessel:	n/a
39	chr10:90750898-90750948	T-47D	breast:	n/a
40	chr10:90750898-90750948	AG09309	skin:	n/a
41	chr10:90750898-90750948	HepG2	liver:	n/a
42	chr10:90750898-90750948	Hepatocyte	liver:	n/a
43	chr10:90750898-90750948	HRCEpiC	kidney:	n/a
44	chr10:90750898-90750948	Hela-S3	cervix:	n/a
45	chr10:90750898-90750948	RPTEC	kidney:	n/a
46	chr10:90750898-90750948	HNPCEpiC	eye:	n/a
47	chr10:90750898-90750948	CMK	blood:	n/a
48	chr10:90750898-90750948	A549	lung:	n/a
49	chr10:90750898-90750948	HCT-116	colon:	n/a
50	chr10:90750898-90750948	HEK293	kidney:	embryo

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:90750740..90751472-chr19:6530793..6531570,2	Hela-S3	cervix:
2	chr10:90750302..90750949-chr5:5422121..5423057,2	Hela-S3	cervix:
3	chr1:210547129..210547649-chr10:90750625..90751284,2	Hela-S3	cervix:
4	chr10:90639301..90642051-chr10:90749823..90751899,2	MCF-7	breast:
5	chr10:90750277..90752970-chr3:42621806..42623827,2	MCF-7	breast:
6	chr10:90750826..90751525-chr15:65588108..65588850,2	Hela-S3	cervix:
7	chr1:113161754..113162505-chr10:90750781..90751305,2	Hela-S3	cervix:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAMBPL1-1	chr10:90750717-90751113	NONHSAT015487

No data

Variant related genes	Relation type
FAS	TF binding region
FAS	CpG island
ENSG00000008324	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000138134	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000093183	Chromatin interaction
ENSG00000125657	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000164151	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10887877	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11202918	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12359362	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324551	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1571011	0.81[ASN][1000 genomes]
rs1571013	0.81[ASN][1000 genomes]
rs1800682	0.96[ASN][1000 genomes]
rs1926195	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1926196	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1926197	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1926199	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1926200	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1926201	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2031610	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3740286	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758485	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3781204	0.81[ASN][1000 genomes]
rs3824729	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3824730	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903454	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4934433	0.85[ASN][1000 genomes]
rs4934434	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6586160	0.80[ASN][1000 genomes]
rs6586161	0.84[ASN][1000 genomes]
rs6586163	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6586164	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6586165	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6586166	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6586167	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7069061	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7069841	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7072828	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7076197	0.81[ASN][1000 genomes]
rs7082101	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7082720	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7097467	0.81[ASN][1000 genomes]
rs7097572	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7897395	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7910660	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7910825	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7911752	0.81[ASN][1000 genomes]
rs7914490	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs978522	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12775501	ACTA2	cis	Whole Blood	GTEx
rs12775501	FAS	cis	Adipose Subcutaneous	GTEx
rs12775501	FAS	cis	Nerve Tibial	GTEx
rs12775501	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs12775501	FAS	cis	Muscle Skeletal	GTEx
rs12775501	ACTA2	cis	multi-tissue	Pritchard
rs12775501	ACTA2-AS1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90749200-90751200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:90749200-90751200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:90749200-90752200	Active TSS	Brain Substantia Nigra	brain
4	chr10:90749400-90751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:90749400-90752200	Active TSS	Aorta	Aorta
6	chr10:90749400-90753400	Active TSS	Left Ventricle	heart
7	chr10:90749400-90754200	Active TSS	Ovary	ovary
8	chr10:90749600-90751200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr10:90749600-90751800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr10:90749600-90752200	Active TSS	Fetal Intestine Large	intestine
11	chr10:90749600-90752600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:90749600-90753600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:90749600-90753600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:90749600-90754200	Active TSS	Right Atrium	heart
15	chr10:90749600-90754400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr10:90749600-90755000	Active TSS	GM12878-XiMat	blood
17	chr10:90749800-90751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:90749800-90751600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr10:90749800-90751800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr10:90749800-90751800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr10:90749800-90751800	Active TSS	Fetal Kidney	kidney
22	chr10:90749800-90751800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr10:90749800-90752000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr10:90749800-90752000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:90749800-90752000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr10:90749800-90752000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:90749800-90752000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr10:90749800-90752400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:90749800-90752400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr10:90749800-90752400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr10:90749800-90753000	Active TSS	Brain Hippocampus Middle	brain
32	chr10:90749800-90753200	Active TSS	HSMMtube	muscle
33	chr10:90749800-90753600	Active TSS	NHDF-Ad	bronchial
34	chr10:90749800-90753800	Active TSS	NHLF	lung
35	chr10:90750000-90751000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr10:90750000-90751600	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr10:90750000-90751600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr10:90750000-90751600	Active TSS	Rectal Smooth Muscle	rectum
39	chr10:90750000-90751600	Active TSS	Thymus	Thymus
40	chr10:90750000-90751800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr10:90750000-90751800	Active TSS	Brain Anterior Caudate	brain
42	chr10:90750000-90751800	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr10:90750000-90751800	Active TSS	Fetal Heart	heart
44	chr10:90750000-90752000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr10:90750000-90752000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr10:90750000-90752000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:90750000-90752000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:90750000-90752000	Active TSS	Gastric	stomach
49	chr10:90750000-90752000	Active TSS	Lung	lung
50	chr10:90750000-90752000	Active TSS	Small Intestine	intestine

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