Variant report

Variant	rs1158218
Chromosome Location	chr2:37546845-37546846
allele	A/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	SPI1	chr2:37546438-37546857	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37533634..37536747-chr2:37545712..37547706,3	K562	blood:
2	chr2:37540781..37542934-chr2:37546496..37548956,2	MCF-7	breast:
3	chr2:37533235..37535380-chr2:37546761..37548910,2	MCF-7	breast:
4	chr2:37545726..37548175-chr2:37554305..37557162,2	K562	blood:

Variant related genes	Relation type
PRKD3	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10166051	0.90[AMR][1000 genomes]
rs10176949	0.82[EUR][1000 genomes]
rs10177176	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10184179	0.88[CEU][hapmap];0.83[TSI][hapmap]
rs10190959	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10209937	0.92[CEU][hapmap];0.80[JPT][hapmap];0.88[TSI][hapmap]
rs1056021	0.93[ASW][hapmap];0.87[CHB][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs11124569	0.96[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11124574	0.93[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.80[JPT][hapmap];0.97[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11124578	0.90[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs1137437	0.92[CEU][hapmap];0.81[GIH][hapmap];0.91[TSI][hapmap]
rs1158219	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][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]
rs11679617	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11682607	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11683872	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11685805	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11689794	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693917	0.82[EUR][1000 genomes]
rs11893943	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12616151	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12618410	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12712532	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13015451	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13030789	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1477055	0.87[CHB][hapmap];0.93[CHD][hapmap]
rs17020490	0.87[ASN][1000 genomes]
rs1989172	0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2041836	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2268987	0.87[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2287093	0.92[CEU][hapmap]
rs2300881	0.87[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2300884	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2300893	0.83[EUR][1000 genomes]
rs2372993	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2373000	0.80[LWK][hapmap]
rs2888434	0.81[ASW][hapmap];0.96[CEU][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3213745	0.96[CEU][hapmap];0.84[GIH][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes]
rs34819784	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3755195	0.96[CEU][hapmap];0.84[GIH][hapmap];0.80[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes]
rs3770752	0.96[CEU][hapmap]
rs3770754	0.80[CEU][hapmap]
rs3770757	0.90[ASN][1000 genomes]
rs3770759	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4670194	0.90[ASN][1000 genomes]
rs4670195	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs4670688	0.87[CHB][hapmap];0.93[CHD][hapmap];0.89[ASN][1000 genomes]
rs4670689	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs4998429	0.96[CEU][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56774710	0.89[ASN][1000 genomes]
rs57361399	0.87[ASN][1000 genomes]
rs6544066	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs6743782	0.88[CEU][hapmap];0.82[YRI][hapmap]
rs67467920	0.86[ASN][1000 genomes]
rs71398224	0.87[ASN][1000 genomes]
rs74177070	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7563610	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7568510	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7570547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7589296	0.83[AMR][1000 genomes]
rs876462	0.92[CEU][hapmap]
rs9309004	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1158218	CEBPZ	cis	Esophagus Mucosa	GTEx
rs1158218	CEBPZ	cis	Nerve Tibial	GTEx
rs1158218	CEBPZ	cis	lymphoblastoid	seeQTL
rs1158218	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL
rs1158218	CEBPZ	cis	Adipose Subcutaneous	GTEx
rs1158218	CEBPZ	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37484600-37550400	Weak transcription	Right Ventricle	heart
2	chr2:37509000-37550800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:37511000-37550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:37519000-37549400	Weak transcription	HSMM	muscle
5	chr2:37520200-37549600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:37520400-37549600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:37520400-37550400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:37530400-37548400	Weak transcription	K562	blood
9	chr2:37530600-37548200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:37530600-37550400	Weak transcription	Thymus	Thymus
11	chr2:37530800-37548600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:37530800-37549600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:37531000-37548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:37533200-37550400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:37533800-37549400	Weak transcription	Fetal Intestine Small	intestine
16	chr2:37534000-37550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:37534400-37550400	Weak transcription	Lung	lung
18	chr2:37534400-37550600	Weak transcription	Left Ventricle	heart
19	chr2:37534600-37548400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:37534800-37548400	Weak transcription	A549	lung
21	chr2:37534800-37548800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:37535000-37548400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:37535000-37548600	Weak transcription	HUVEC	blood vessel
24	chr2:37535000-37549400	Weak transcription	Hela-S3	cervix
25	chr2:37535400-37548600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:37537000-37550400	Weak transcription	HSMMtube	muscle
27	chr2:37538400-37549600	Weak transcription	Psoas Muscle	Psoas
28	chr2:37538600-37548600	Weak transcription	Liver	Liver
29	chr2:37539000-37548400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:37539800-37548600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:37539800-37548800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:37540600-37547400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:37540600-37548600	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:37542000-37550400	Weak transcription	Colonic Mucosa	Colon
35	chr2:37542400-37548400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:37542400-37550800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:37542800-37548400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:37542800-37548400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:37542800-37549600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:37542800-37550800	Weak transcription	Gastric	stomach
41	chr2:37543000-37550400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:37543400-37548400	Enhancers	Colon Smooth Muscle	Colon
43	chr2:37543600-37548400	Weak transcription	Spleen	Spleen
44	chr2:37543600-37548400	Weak transcription	HepG2	liver
45	chr2:37543600-37548600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:37543600-37548800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:37543600-37548800	Weak transcription	Small Intestine	intestine
48	chr2:37543600-37549400	Weak transcription	Right Atrium	heart
49	chr2:37543600-37550400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:37543800-37548400	Weak transcription	Primary T cells from cord blood	blood

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