Variant report

Variant	rs12992047
Chromosome Location	chr2:37421363-37421364
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37193543..37195604-chr2:37419400..37421969,2	K562	blood:
2	chr2:37382658..37387385-chr2:37421093..37425812,6	MCF-7	breast:
3	chr2:37420975..37425403-chr2:37457376..37460314,8	K562	blood:
4	chr2:37420171..37423121-chr2:37423446..37425110,2	K562	blood:

Variant related genes	Relation type
ENSG00000115808	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000218739	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10865123	0.92[ASN][1000 genomes]
rs1137437	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv961394	chr2:37421117-37422657	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12992047	CEBPZ	cis	Esophagus Mucosa	GTEx
rs12992047	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37416800-37423200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:37417200-37423200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:37417200-37423200	Weak transcription	Pancreas	Pancrea
4	chr2:37417400-37423200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:37417400-37423200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:37417800-37423200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:37417800-37423200	Weak transcription	NH-A	brain
8	chr2:37418000-37423200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:37418000-37423200	Weak transcription	A549	lung
10	chr2:37418000-37423200	Weak transcription	Hela-S3	cervix
11	chr2:37418000-37423200	Weak transcription	HMEC	breast
12	chr2:37418000-37423400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:37418200-37423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:37418200-37423400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:37418400-37423200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:37418400-37423200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:37418400-37423200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:37418600-37427200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:37418800-37422400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:37419200-37423000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:37419200-37423200	Weak transcription	Esophagus	oesophagus
22	chr2:37419200-37423200	Weak transcription	Spleen	Spleen
23	chr2:37419200-37423400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:37419200-37423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:37419200-37423600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:37419400-37423200	Weak transcription	Primary B cells from cord blood	blood
27	chr2:37420200-37422800	Weak transcription	HepG2	liver
28	chr2:37420200-37423200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:37420200-37423200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:37420200-37423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:37420200-37423400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:37420200-37423400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:37420200-37423400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:37420400-37423000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:37420400-37423200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:37420400-37423200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:37420400-37423200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:37420400-37423400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:37421000-37423200	Weak transcription	Primary T cells from cord blood	blood
40	chr2:37421200-37423200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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