Variant report

Variant	rs73227920
Chromosome Location	chr12:122061034-122061035
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	RAD21	chr12:122060959-122061346	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:122061005-122061252	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr12:122060967-122061252	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ORAI1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10770190	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1113409	0.82[EUR][1000 genomes]
rs11502393	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11610515	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12229447	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12300327	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12308869	0.82[EUR][1000 genomes]
rs12313273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12319775	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35989686	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4760125	0.82[EUR][1000 genomes]
rs59988934	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6486776	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486787	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6486795	0.87[AMR][1000 genomes]
rs7313601	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73227933	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7398511	0.82[EUR][1000 genomes]

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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122028800-122064000	Weak transcription	Right Atrium	heart
2	chr12:122048800-122062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:122048800-122062800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:122049400-122062800	Weak transcription	Thymus	Thymus
5	chr12:122049800-122062600	Weak transcription	Hela-S3	cervix
6	chr12:122050000-122063800	Weak transcription	Fetal Stomach	stomach
7	chr12:122050200-122062800	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:122053000-122062800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:122054200-122062200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:122057000-122062600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:122057200-122062600	Weak transcription	GM12878-XiMat	blood
12	chr12:122057800-122062600	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:122058000-122062600	Weak transcription	Osteobl	bone
14	chr12:122058000-122062800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:122058000-122062800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:122058000-122062800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:122058000-122062800	Weak transcription	A549	lung
18	chr12:122058000-122062800	Weak transcription	HSMM	muscle
19	chr12:122058200-122062200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:122058200-122062800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:122058200-122062800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:122058400-122062600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:122058400-122062600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:122058400-122062600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:122058400-122062800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:122058400-122062800	Weak transcription	Primary T cells from cord blood	blood
27	chr12:122058400-122062800	Weak transcription	NH-A	brain
28	chr12:122058400-122064000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:122058600-122062600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:122058600-122062600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:122058600-122062600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:122058600-122062600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:122058600-122062600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:122058600-122062600	Weak transcription	HUVEC	blood vessel
35	chr12:122058600-122062800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:122058600-122062800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:122058600-122062800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:122058600-122062800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:122058600-122062800	Weak transcription	Primary B cells from cord blood	blood
40	chr12:122058600-122062800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:122058600-122062800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:122058800-122062000	Weak transcription	Placenta	Placenta
43	chr12:122058800-122062200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:122058800-122062600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:122058800-122062600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:122058800-122062600	Weak transcription	HepG2	liver
47	chr12:122058800-122062600	Weak transcription	K562	blood
48	chr12:122058800-122062600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:122058800-122062800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:122058800-122062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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