Variant report

Variant	rs1137453
Chromosome Location	chr2:37431646-37431647
allele	C/G
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	POLR2A	chr2:37431534-37431691	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:37431220-37431657	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000272054	TF binding region

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	0.91[EUR][1000 genomes]
rs10865123	0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11124569	0.81[EUR][1000 genomes]
rs1137437	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12993090	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2268990	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2287093	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213745	0.87[EUR][1000 genomes]
rs3755195	0.87[EUR][1000 genomes]
rs4998429	0.81[EUR][1000 genomes]
rs7589296	0.86[EUR][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1137453	RP11-423P10.2	cis	Esophagus Mucosa	GTEx
rs1137453	PRKD3	cis	lung	GTEx
rs1137453	CEBPZ	cis	Esophagus Muscularis	GTEx
rs1137453	CEBPZ	cis	Adipose Subcutaneous	GTEx
rs1137453	CEBPZ	cis	Thyroid	GTEx
rs1137453	CEBPZ	cis	Esophagus Mucosa	GTEx
rs1137453	CEBPZ	cis	Nerve Tibial	GTEx
rs1137453	RP11-423P10.2	cis	Esophagus Muscularis	GTEx
rs1137453	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37424400-37433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:37424400-37446400	Weak transcription	Small Intestine	intestine
3	chr2:37424800-37433200	Weak transcription	Right Atrium	heart
4	chr2:37425000-37433200	Weak transcription	Esophagus	oesophagus
5	chr2:37425000-37433200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:37425000-37444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:37425200-37433000	Weak transcription	Colonic Mucosa	Colon
8	chr2:37425200-37433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:37425200-37433200	Weak transcription	Pancreas	Pancrea
10	chr2:37425200-37433200	Weak transcription	Stomach Mucosa	stomach
11	chr2:37425200-37433200	Weak transcription	Spleen	Spleen
12	chr2:37426200-37438200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:37426600-37433600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:37426600-37438200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:37426600-37451400	Strong transcription	Fetal Thymus	thymus
16	chr2:37426800-37433200	Strong transcription	Primary B cells from cord blood	blood
17	chr2:37427000-37433200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:37427000-37433400	Strong transcription	Placenta	Placenta
19	chr2:37427000-37434200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr2:37427200-37441200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:37427400-37434200	Strong transcription	Hela-S3	cervix
22	chr2:37427400-37435600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:37427600-37433200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:37427600-37433200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr2:37427600-37434200	Strong transcription	NH-A	brain
26	chr2:37427600-37439600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:37427800-37431800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:37427800-37431800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:37427800-37432600	Weak transcription	Psoas Muscle	Psoas
30	chr2:37427800-37433000	Strong transcription	Ovary	ovary
31	chr2:37427800-37451400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:37428000-37439600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:37428800-37433000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:37429000-37433200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:37429000-37449200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:37429200-37433200	Weak transcription	Aorta	Aorta
37	chr2:37429200-37434600	Strong transcription	HSMM	muscle
38	chr2:37429400-37437400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:37429400-37449000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:37429800-37452600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:37430200-37431800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr2:37430200-37434000	Strong transcription	Osteobl	bone
43	chr2:37430200-37438200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr2:37430400-37432000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:37430400-37432000	ZNF genes & repeats	K562	blood
46	chr2:37430400-37434800	ZNF genes & repeats	GM12878-XiMat	blood
47	chr2:37430400-37435600	ZNF genes & repeats	A549	lung
48	chr2:37430400-37436600	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr2:37430600-37431800	Strong transcription	Left Ventricle	heart
50	chr2:37430600-37432000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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