Variant report

Variant	rs12993090
Chromosome Location	chr2:37444773-37444774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10182759	0.81[EUR][1000 genomes]
rs10209937	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10865123	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11124569	0.80[EUR][1000 genomes]
rs1137437	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1137453	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2268990	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2287093	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3213745	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3755195	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4998429	0.80[EUR][1000 genomes]
rs7589296	0.86[EUR][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12993090	CEBPZ	cis	Nerve Tibial	GTEx
rs12993090	CEBPZ	cis	Adipose Subcutaneous	GTEx
rs12993090	RP11-423P10.2	cis	Esophagus Mucosa	GTEx
rs12993090	RP11-423P10.2	cis	Esophagus Muscularis	GTEx
rs12993090	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL
rs12993090	CEBPZ	cis	Esophagus Muscularis	GTEx
rs12993090	PRKD3	cis	lung	GTEx
rs12993090	CEBPZ	cis	Esophagus Mucosa	GTEx
rs12993090	CEBPZ	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37424400-37446400	Weak transcription	Small Intestine	intestine
2	chr2:37426600-37451400	Strong transcription	Fetal Thymus	thymus
3	chr2:37427800-37451400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr2:37429000-37449200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:37429400-37449000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:37429800-37452600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:37431200-37450600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:37431200-37450600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:37431200-37452400	Strong transcription	Dnd41	blood
10	chr2:37431400-37450800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:37433000-37451600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:37433200-37450600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:37433800-37445800	Strong transcription	Placenta	Placenta
14	chr2:37433800-37447800	Weak transcription	Aorta	Aorta
15	chr2:37433800-37447800	Weak transcription	Gastric	stomach
16	chr2:37433800-37448000	Weak transcription	Pancreas	Pancrea
17	chr2:37433800-37453600	Weak transcription	Spleen	Spleen
18	chr2:37434000-37447600	Weak transcription	Right Ventricle	heart
19	chr2:37434200-37452400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:37435600-37444800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:37435600-37444800	Strong transcription	Colon Smooth Muscle	Colon
22	chr2:37436400-37444800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:37436400-37446800	Strong transcription	K562	blood
24	chr2:37436600-37444800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:37436600-37444800	Strong transcription	NH-A	brain
26	chr2:37436600-37450000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:37436600-37451400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:37436800-37444800	Strong transcription	Primary B cells from cord blood	blood
29	chr2:37436800-37444800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:37436800-37450400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:37436800-37451400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:37436800-37452200	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr2:37436800-37456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:37437000-37447000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:37437000-37449200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:37437000-37453400	Weak transcription	Fetal Heart	heart
37	chr2:37437200-37451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:37437200-37452400	Strong transcription	Fetal Intestine Large	intestine
39	chr2:37437200-37456600	Weak transcription	Stomach Mucosa	stomach
40	chr2:37437400-37445000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:37437400-37450800	Strong transcription	Liver	Liver
42	chr2:37437400-37451200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:37437600-37451200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:37437600-37451200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:37437800-37448000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:37437800-37451000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:37437800-37451600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:37438000-37448800	Strong transcription	GM12878-XiMat	blood
49	chr2:37438000-37455200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:37438200-37451000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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