Variant report

Variant	rs12622740
Chromosome Location	chr2:37466846-37466847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37464697..37467448-chr2:37467935..37469545,2	K562	blood:
2	chr2:37455370..37456889-chr2:37465153..37467746,2	MCF-7	breast:
3	chr2:37456368..37460350-chr2:37466636..37472512,8	MCF-7	breast:
4	chr2:37466438..37469109-chr2:37469695..37472739,3	K562	blood:
5	chr2:37466495..37468720-chr2:37469102..37471276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115816	Chromatin interaction
ENSG00000003509	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11124576	0.82[CHD][hapmap]
rs11689186	0.93[CHD][hapmap]
rs11897101	0.96[YRI][hapmap]
rs12712528	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	0.89[CHB][hapmap];0.89[CHD][hapmap]
rs2300892	0.89[CHB][hapmap];0.96[CHD][hapmap];0.83[ASN][1000 genomes]
rs2302650	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs3770763	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs3819892	0.82[CHD][hapmap]
rs55991517	0.85[ASN][1000 genomes]
rs61208496	0.87[ASN][1000 genomes]
rs6726709	0.85[CHD][hapmap]
rs6743961	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][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]
rs72792821	0.85[ASN][1000 genomes]
rs7560904	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9318	0.83[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12622740	CEBPZ	cis	cerebellum	SCAN
rs12622740	PRKD3	Cis_1M	lymphoblastoid	RTeQTL
rs12622740	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL
rs12622740	CEBPZ	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37460000-37468200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37460000-37468600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:37460000-37471200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:37460000-37474000	Weak transcription	Colonic Mucosa	Colon
5	chr2:37460000-37495600	Weak transcription	Small Intestine	intestine
6	chr2:37460000-37501600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:37460200-37468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:37460200-37468800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:37460200-37528600	Weak transcription	Stomach Mucosa	stomach
10	chr2:37460400-37467200	Weak transcription	Esophagus	oesophagus
11	chr2:37460400-37467200	Weak transcription	Pancreas	Pancrea
12	chr2:37460400-37467400	Weak transcription	NHDF-Ad	bronchial
13	chr2:37460400-37468000	Weak transcription	HUVEC	blood vessel
14	chr2:37460400-37468400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:37460400-37468400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:37460400-37468400	Weak transcription	NH-A	brain
17	chr2:37460400-37468600	Weak transcription	Brain Angular Gyrus	brain
18	chr2:37460400-37468600	Weak transcription	Brain Germinal Matrix	brain
19	chr2:37460400-37468800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:37460400-37468800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:37460400-37469000	Weak transcription	HMEC	breast
22	chr2:37460400-37470600	Weak transcription	Fetal Kidney	kidney
23	chr2:37460400-37471200	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:37460400-37472200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:37460400-37472400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:37460400-37476600	Weak transcription	Right Ventricle	heart
27	chr2:37460400-37481600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:37460400-37492200	Weak transcription	Fetal Heart	heart
29	chr2:37460400-37498600	Weak transcription	Gastric	stomach
30	chr2:37460600-37467800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:37460600-37468600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:37460600-37468600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:37460600-37468800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:37460600-37471200	Weak transcription	Fetal Brain Male	brain
35	chr2:37460600-37488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:37460600-37493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:37460600-37498600	Weak transcription	Spleen	Spleen
38	chr2:37461000-37488200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:37461000-37489800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:37461200-37467600	Strong transcription	Fetal Intestine Small	intestine
41	chr2:37461200-37467800	Strong transcription	Fetal Stomach	stomach
42	chr2:37461200-37468800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:37461200-37471400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:37461200-37518800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:37461600-37467400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:37461800-37486800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr2:37462000-37467200	Weak transcription	HepG2	liver
48	chr2:37462000-37467400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:37462000-37473400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:37462000-37487200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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