Variant report

Variant	rs12712528
Chromosome Location	chr2:37461139-37461140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37461002..37463569-chr2:37509247..37510932,2	K562	blood:
2	chr2:37460819..37462677-chr2:37478640..37481087,2	K562	blood:
3	chr2:37460312..37461934-chr2:37492568..37495549,2	K562	blood:
4	chr2:37458068..37462101-chr2:37468406..37471417,5	K562	blood:

Variant related genes	Relation type
ENSG00000003509	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11124576	0.82[CHD][hapmap]
rs11689186	0.93[CHD][hapmap]
rs11897101	0.96[YRI][hapmap]
rs12622740	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2300885	0.94[CHB][hapmap];0.89[CHD][hapmap]
rs2300892	0.94[CHB][hapmap];0.96[CHD][hapmap]
rs2302650	0.94[CHB][hapmap]
rs3770763	0.88[CHB][hapmap]
rs3819892	0.82[CHD][hapmap]
rs55991517	0.82[ASN][1000 genomes]
rs61208496	0.83[ASN][1000 genomes]
rs6726709	0.85[CHD][hapmap]
rs6743961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792821	0.82[ASN][1000 genomes]
rs7560904	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12712528	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL
rs12712528	PRKD3	Cis_1M	lymphoblastoid	RTeQTL
rs12712528	CEBPZ	cis	lymphoblastoid	seeQTL
rs12712528	CEBPZ	cis	cerebellum	SCAN
rs12712528	CEBPZ	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37459800-37461600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
2	chr2:37459800-37461600	Weak transcription	Aorta	Aorta
3	chr2:37459800-37465000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:37460000-37461200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:37460000-37463200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:37460000-37463400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:37460000-37468200	Weak transcription	Psoas Muscle	Psoas
8	chr2:37460000-37468600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:37460000-37471200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:37460000-37474000	Weak transcription	Colonic Mucosa	Colon
11	chr2:37460000-37495600	Weak transcription	Small Intestine	intestine
12	chr2:37460000-37501600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:37460200-37461200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:37460200-37461200	Weak transcription	Fetal Stomach	stomach
15	chr2:37460200-37461400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:37460200-37461800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:37460200-37462000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:37460200-37462600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:37460200-37463800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:37460200-37464600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:37460200-37464600	Weak transcription	NHLF	lung
22	chr2:37460200-37465200	Weak transcription	Primary B cells from cord blood	blood
23	chr2:37460200-37466600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:37460200-37468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:37460200-37468800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:37460200-37528600	Weak transcription	Stomach Mucosa	stomach
27	chr2:37460400-37461200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:37460400-37461400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:37460400-37461400	Weak transcription	NHEK	skin
30	chr2:37460400-37461600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:37460400-37461600	Weak transcription	K562	blood
32	chr2:37460400-37461800	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:37460400-37461800	Weak transcription	Thymus	Thymus
34	chr2:37460400-37462000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:37460400-37462000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:37460400-37462000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:37460400-37462000	Weak transcription	GM12878-XiMat	blood
38	chr2:37460400-37462200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:37460400-37462200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:37460400-37462200	Weak transcription	HSMMtube	muscle
41	chr2:37460400-37462400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:37460400-37462400	Weak transcription	HSMM	muscle
43	chr2:37460400-37463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:37460400-37463200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:37460400-37463200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:37460400-37463200	Weak transcription	Fetal Thymus	thymus
47	chr2:37460400-37463200	Weak transcription	A549	lung
48	chr2:37460400-37463400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:37460400-37463400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:37460400-37463600	Weak transcription	Colon Smooth Muscle	Colon

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