Variant report

Variant	rs12313273
Chromosome Location	chr12:122063010-122063011
allele	C/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	SIN3AK20	chr12:122062697-122063065	A549	lung:	n/a	n/a
2	MXI1	chr12:122062542-122063106	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr12:122062584-122063014	SK-N-SH	brain:	n/a	n/a
4	MAX	chr12:122062563-122063131	K562	blood:	n/a	n/a
5	CTCF	chr12:122062520-122063227	A549	lung:	n/a	chr12:122062678-122062691 chr12:122062681-122062689 chr12:122062676-122062694 chr12:122062671-122062692 chr12:122062678-122062691 chr12:122062677-122062693
6	E2F6	chr12:122062565-122063026	A549	lung:	n/a	chr12:122062673-122062687 chr12:122062672-122062681
7	MYC	chr12:122062540-122063309	A549	lung:	n/a	n/a
8	CTCF	chr12:122062939-122063056	GM12878	blood:	n/a	n/a
9	TCF12	chr12:122062474-122063104	A549	lung:	n/a	n/a
10	CTCF	chr12:122062974-122063033	GM10266	blood:	n/a	n/a
11	SMC3	chr12:122062575-122063126	SK-N-SH	brain:	n/a	chr12:122062678-122062692
12	CTCF	chr12:122062955-122063032	GM12892	blood:	n/a	n/a
13	MAX	chr12:122062510-122063197	A549	lung:	n/a	n/a
14	MAX	chr12:122062548-122063234	HCT-116	colon:	n/a	n/a
15	CBX3	chr12:122062523-122063181	K562	blood:	n/a	n/a
16	CTCF	chr12:122062982-122063047	GM20000	blood:	n/a	n/a
17	USF2	chr12:122062634-122063056	H1-hESC	embryonic stem cell:	n/a	chr12:122062726-122062737
18	CTCF	chr12:122062554-122063065	HCT-116	colon:	n/a	chr12:122062678-122062691 chr12:122062681-122062689 chr12:122062676-122062694 chr12:122062671-122062692 chr12:122062678-122062691 chr12:122062677-122062693
19	NR2F2	chr12:122062502-122063236	K562	blood:	n/a	n/a
20	CTCF	chr12:122062541-122063238	SK-N-SH	brain:	n/a	chr12:122062678-122062691 chr12:122062681-122062689 chr12:122062676-122062694 chr12:122062671-122062692 chr12:122062678-122062691 chr12:122062677-122062693
21	USF1	chr12:122062569-122063045	HCT-116	colon:	n/a	chr12:122062726-122062737
22	RAD21	chr12:122062510-122063076	SK-N-SH	brain:	n/a	chr12:122062674-122062693 chr12:122062680-122062689 chr12:122062684-122062691
23	POLR2A	chr12:122062610-122063053	PFSK-1	brain:	n/a	n/a
24	MYC	chr12:122062538-122063058	K562	blood:	n/a	n/a
25	MYC	chr12:122062550-122063118	K562	blood:	n/a	n/a
26	MTA3	chr12:122062499-122063046	GM12878	blood:	n/a	n/a
27	RAD21	chr12:122062493-122063017	HCT-116	colon:	n/a	chr12:122062674-122062693 chr12:122062680-122062689 chr12:122062684-122062691
28	RAD21	chr12:122062505-122063058	GM12878	blood:	n/a	chr12:122062674-122062693 chr12:122062680-122062689 chr12:122062684-122062691
29	CTCF	chr12:122062919-122063036	GM19238	blood:	n/a	n/a
30	MAZ	chr12:122062536-122063015	K562	blood:	n/a	n/a
31	TEAD4	chr12:122062483-122063155	K562	blood:	n/a	n/a
32	CTCF	chr12:122062948-122063012	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122063005-122063055	BE2_C	brain:	n/a
2	chr12:122063005-122063055	HNPCEpiC	eye:	n/a
3	chr12:122063005-122063055	GM12892	blood:	n/a
4	chr12:122063005-122063055	NH-A	brain:	n/a
5	chr12:122063005-122063055	AG10803	skin:	n/a
6	chr12:122063005-122063055	ProgFib	skin:	n/a
7	chr12:122063005-122063055	PFSK-1	brain:	n/a
8	chr12:122063005-122063055	HCT-116	colon:	n/a
9	chr12:122063005-122063055	RPTEC	kidney:	n/a
10	chr12:122063005-122063055	HRCEpiC	kidney:	n/a
11	chr12:122063005-122063055	SKMC	muscle:	n/a
12	chr12:122063005-122063055	Hepatocyte	liver:	n/a
13	chr12:122063005-122063055	GM12878	blood:	n/a
14	chr12:122063005-122063055	IMR90	lung:	fetal
15	chr12:122063005-122063055	HRPEpiC	eye:	n/a
16	chr12:122063005-122063055	HAEpiC	amniotic membrane:	n/a
17	chr12:122063005-122063055	AG09309	skin:	n/a
18	chr12:122063005-122063055	ovcar-3	ovarian:	n/a
19	chr12:122063005-122063055	Jurkat	blood:	n/a
20	chr12:122063005-122063055	CMK	blood:	n/a
21	chr12:122063005-122063055	H1-hESC	embryonic stem cell:	embryo
22	chr12:122063005-122063055	Caco-2	colon:	n/a
23	chr12:122063005-122063055	AG04450	lung:	fetal
24	chr12:122063005-122063055	LNCaP	prostate:	n/a
25	chr12:122063005-122063055	HCF	heart:	n/a
26	chr12:122063005-122063055	AG04449	skin:	fetal
27	chr12:122063005-122063055	K562	blood:	n/a
28	chr12:122063005-122063055	GM06990	blood:	n/a
29	chr12:122063005-122063055	HUVEC	blood vessel:	n/a
30	chr12:122063005-122063055	A549	lung:	n/a
31	chr12:122063005-122063055	HCM	heart:	n/a
32	chr12:122063005-122063055	HCPEpiC	choroid plexus:	n/a
33	chr12:122063005-122063055	GM12891	blood:	n/a
34	chr12:122063005-122063055	MCF10A-Er-Src	breast:	n/a
35	chr12:122063005-122063055	SAEC	small airway:	n/a
36	chr12:122063005-122063055	SK-N-SH_RA	brain:	n/a
37	chr12:122063005-122063055	AG09319	gingival:	n/a
38	chr12:122063005-122063055	U87	brain:	n/a
39	chr12:122063005-122063055	HRE	kidney:	n/a
40	chr12:122063005-122063055	NHBE	bronchial:	n/a
41	chr12:122063005-122063055	NB4	blood:	n/a
42	chr12:122063005-122063055	BJ	skin:	n/a
43	chr12:122063005-122063055	SK-N-SH	brain:	n/a
44	chr12:122063005-122063055	Hela-S3	cervix:	n/a
45	chr12:122063005-122063055	T-47D	breast:	n/a
46	chr12:122063005-122063055	HPAEpiC	pulmonary alveolar:	n/a
47	chr12:122063005-122063055	HL-60	blood:	n/a
48	chr12:122063005-122063055	SK-N-MC	brain:	n/a
49	chr12:122063005-122063055	PrEC	prostate:	n/a
50	chr12:122063005-122063055	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122011020..122013695-chr12:122061585..122064129,2	K562	blood:
2	chr12:122062685..122065398-chr12:122241584..122243179,2	MCF-7	breast:
3	chr12:122014421..122021664-chr12:122061311..122067896,12	MCF-7	breast:
4	chr12:121971488..121973015-chr12:122062542..122064592,2	K562	blood:
5	chr12:122015964..122018942-chr12:122062430..122066173,5	K562	blood:
6	chr12:121990007..121990815-chr12:122062235..122063163,4	K562	blood:
7	chr12:122062741..122064315-chr12:122100819..122103491,2	K562	blood:
8	chr12:122015992..122019375-chr12:122062452..122065791,4	MCF-7	breast:
9	chr12:122015380..122018512-chr12:122063005..122066173,5	K562	blood:
10	chr12:122057244..122059003-chr12:122062084..122064323,2	K562	blood:
11	chr12:122062970..122066467-chr12:122109966..122112755,3	MCF-7	breast:

Variant related genes	Relation type
ORAI1	TF binding region
ORAI1	CpG island
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000139714	Chromatin interaction
ENSG00000256742	Chromatin interaction
ENSG00000089094	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10770190	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840648	0.83[MEX][hapmap]
rs1113409	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs11502393	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11610515	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11829285	0.82[EUR][1000 genomes]
rs12229447	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12300327	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12308869	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs12319775	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28378998	0.87[MEX][hapmap]
rs28517331	0.87[MEX][hapmap]
rs35989686	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3741595	0.88[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs4760125	0.86[EUR][1000 genomes]
rs59988934	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6486776	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486787	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6486795	0.89[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes]
rs7313601	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73227920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73227933	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7398511	0.86[EUR][1000 genomes]
rs7484839	0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12313273	ORAI1	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122028800-122064000	Weak transcription	Right Atrium	heart
2	chr12:122050000-122063800	Weak transcription	Fetal Stomach	stomach
3	chr12:122058400-122064000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122061200-122064000	Weak transcription	Lung	lung
5	chr12:122061600-122063800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr12:122062000-122063800	Enhancers	Placenta	Placenta
7	chr12:122062200-122063800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:122062200-122063800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:122062600-122063200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:122062600-122063200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr12:122062600-122063200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:122062600-122063200	Flanking Active TSS	Dnd41	blood
13	chr12:122062600-122063200	Flanking Active TSS	Hela-S3	cervix
14	chr12:122062600-122063200	Flanking Active TSS	K562	blood
15	chr12:122062600-122063200	Enhancers	NHLF	lung
16	chr12:122062600-122063400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:122062600-122063400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:122062600-122063600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:122062600-122063600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:122062600-122063800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:122062600-122063800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:122062600-122063800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:122062600-122063800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:122062600-122063800	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:122062600-122063800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:122062600-122063800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:122062600-122063800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:122062600-122063800	Enhancers	Fetal Thymus	thymus
29	chr12:122062600-122063800	Enhancers	GM12878-XiMat	blood
30	chr12:122062600-122063800	Enhancers	HUVEC	blood vessel
31	chr12:122062600-122063800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr12:122062600-122064000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:122062600-122064000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:122062600-122064000	Enhancers	Fetal Muscle Leg	muscle
35	chr12:122062600-122064000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:122062800-122063200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:122062800-122063200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:122062800-122063200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:122062800-122063200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr12:122062800-122063200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:122062800-122063200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:122062800-122063200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:122062800-122063200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:122062800-122063200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr12:122062800-122063200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr12:122062800-122063200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:122062800-122063200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:122062800-122063200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:122062800-122063200	Enhancers	Brain Cingulate Gyrus	brain
50	chr12:122062800-122063200	Enhancers	Brain Hippocampus Middle	brain

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