Variant report

Variant	rs11893943
Chromosome Location	chr2:37508433-37508434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37506987..37508993-chr2:37550615..37552782,2	K562	blood:
2	chr2:37506946..37509405-chr2:37512326..37514718,2	K562	blood:
3	chr2:37507493..37509910-chr2:37550615..37553345,2	K562	blood:

Variant related genes	Relation type
ENSG00000232028	Chromatin interaction
ENSG00000115825	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10166051	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10176949	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10177176	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10184179	0.84[EUR][1000 genomes]
rs10190959	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10209937	0.81[EUR][1000 genomes]
rs1056021	0.92[ASN][1000 genomes]
rs11124569	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11124574	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1158218	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1158219	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11679617	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11680401	0.84[EUR][1000 genomes]
rs11682607	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11683872	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11685805	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11689794	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11693917	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12616151	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618410	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12712532	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13015451	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13030789	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13420463	0.87[ASN][1000 genomes]
rs17020386	0.82[ASN][1000 genomes]
rs17020490	0.82[ASN][1000 genomes]
rs1989172	0.83[ASN][1000 genomes]
rs2041836	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268987	0.82[ASN][1000 genomes]
rs2268990	0.80[EUR][1000 genomes]
rs2300881	0.80[ASN][1000 genomes]
rs2300884	0.84[ASN][1000 genomes]
rs2300893	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2372993	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2888434	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3213745	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34819784	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3755195	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3770759	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4581878	0.80[ASN][1000 genomes]
rs4998429	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57361399	0.83[ASN][1000 genomes]
rs71398224	0.81[ASN][1000 genomes]
rs72792829	0.93[ASN][1000 genomes]
rs74177070	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7568510	0.81[ASN][1000 genomes]
rs7570547	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7584565	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7589296	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs876462	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9309004	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11893943	PRKD3	cis	lung	GTEx
rs11893943	CEBPZ	cis	Thyroid	GTEx
rs11893943	CEBPZ	cis	Adipose Subcutaneous	GTEx
rs11893943	CEBPZ	cis	Esophagus Muscularis	GTEx
rs11893943	CEBPZ	cis	lung	GTEx
rs11893943	CEBPZ	cis	Esophagus Mucosa	GTEx
rs11893943	RP11-423P10.2	cis	Esophagus Muscularis	GTEx
rs11893943	CEBPZ	cis	Nerve Tibial	GTEx
rs11893943	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37460200-37528600	Weak transcription	Stomach Mucosa	stomach
2	chr2:37461200-37518800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:37463400-37509600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:37467600-37530200	Weak transcription	Pancreas	Pancrea
5	chr2:37470400-37521600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:37470800-37521400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:37479400-37520600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:37482800-37528600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:37484200-37539000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:37484400-37511600	Weak transcription	Fetal Brain Male	brain
11	chr2:37484600-37550400	Weak transcription	Right Ventricle	heart
12	chr2:37487200-37528600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:37487600-37521200	Weak transcription	Brain Angular Gyrus	brain
14	chr2:37490400-37510800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:37490600-37521000	Strong transcription	Dnd41	blood
16	chr2:37491000-37512400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:37491200-37510200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:37491200-37510200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:37491800-37509400	Strong transcription	Osteobl	bone
20	chr2:37492000-37509600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:37492000-37510800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:37492000-37511200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:37492400-37510000	Weak transcription	Fetal Heart	heart
24	chr2:37492800-37511200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:37494000-37510200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:37495400-37509800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:37495400-37510600	Strong transcription	Primary B cells from cord blood	blood
28	chr2:37499000-37510400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:37499200-37520800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:37499200-37521400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:37499200-37522200	Weak transcription	Spleen	Spleen
32	chr2:37499400-37522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:37499400-37528600	Weak transcription	Brain Anterior Caudate	brain
34	chr2:37499400-37540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:37500200-37518600	Weak transcription	Fetal Stomach	stomach
36	chr2:37500200-37529800	Weak transcription	Fetal Intestine Small	intestine
37	chr2:37500200-37530200	Weak transcription	Gastric	stomach
38	chr2:37500400-37519200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:37500400-37520400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:37500600-37510000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:37500600-37530200	Weak transcription	Thymus	Thymus
42	chr2:37502000-37508600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:37502200-37509800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:37502200-37510200	Weak transcription	Placenta	Placenta
45	chr2:37502200-37528200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:37502200-37528600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:37502400-37510000	Weak transcription	HSMMtube	muscle
48	chr2:37502400-37516200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:37502600-37508600	Weak transcription	Left Ventricle	heart
50	chr2:37502600-37508800	Weak transcription	Colon Smooth Muscle	Colon

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