Variant report

Variant	rs2041836
Chromosome Location	chr2:37509133-37509134
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr2:37509069-37509327	GM12878	blood:	n/a	n/a
2	CTCF	chr2:37509100-37509250	SAEC	small airway:	n/a	n/a
3	CTCF	chr2:37509040-37509190	HFF	foreskin:	n/a	n/a
4	RAD21	chr2:37509063-37509322	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:37509123-37509302	K562	blood:	n/a	n/a
6	CTCF	chr2:37509114-37509290	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:37509120-37509270	NHEK	skin:	n/a	n/a
8	CTCF	chr2:37509100-37509250	GM12875	blood:	n/a	n/a
9	CTCF	chr2:37509080-37509230	HRE	kidney:	n/a	n/a
10	RAD21	chr2:37509052-37509467	HCT-116	colon:	n/a	n/a
11	CTCF	chr2:37509020-37509170	BE2_C	brain:	n/a	n/a
12	CTCF	chr2:37509101-37509311	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:37509129-37509268	HepG2	liver:	n/a	n/a
14	CTCF	chr2:37509124-37509316	GM12878	blood:	n/a	n/a
15	CTCF	chr2:37509100-37509250	HMF	breast:	n/a	n/a
16	CTCF	chr2:37509100-37509250	GM12864	blood:	n/a	n/a
17	CTCF	chr2:37509120-37509270	GM12871	blood:	n/a	n/a
18	CTCF	chr2:37509120-37509270	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr2:37508986-37509408	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:37509020-37509170	A549	lung:	n/a	n/a
21	RAD21	chr2:37509109-37509378	HepG2	liver:	n/a	n/a
22	CTCF	chr2:37509060-37509210	HMEC	breast:	n/a	n/a
23	ZNF143	chr2:37509111-37509253	GM12878	blood:	n/a	n/a
24	CTCF	chr2:37509074-37509356	K562	blood:	n/a	n/a
25	CTCF	chr2:37509080-37509408	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:37509120-37509270	HMEC	breast:	n/a	n/a
27	CTCF	chr2:37509120-37509270	BE2_C	brain:	n/a	n/a
28	CTCF	chr2:37509080-37509230	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr2:37509080-37509230	GM06990	blood:	n/a	n/a
30	CTCF	chr2:37509031-37509380	GM12878	blood:	n/a	n/a
31	CTCF	chr2:37509100-37509250	AG09319	gingival:	n/a	n/a
32	CTCF	chr2:37509120-37509270	GM12873	blood:	n/a	n/a
33	CTCF	chr2:37509100-37509250	A549	lung:	n/a	n/a
34	CTCF	chr2:37509049-37509405	HepG2	liver:	n/a	n/a
35	CTCF	chr2:37509000-37509150	NHEK	skin:	n/a	n/a
36	CTCF	chr2:37509120-37509270	RPTEC	kidney:	n/a	n/a
37	RAD21	chr2:37509102-37509302	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr2:37509060-37509210	HAc	cerebellar:	n/a	n/a
39	CTCF	chr2:37509100-37509250	HEK293	kidney:	n/a	n/a
40	CTCF	chr2:37509080-37509230	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr2:37509100-37509250	Caco-2	colon:	n/a	n/a
42	CTCF	chr2:37509100-37509250	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:37509120-37509270	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
PRKD3	TF binding region
ENSG00000115825	Chromatin interaction
ENSG00000232028	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10166051	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10176949	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10177176	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10184179	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs10190959	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10209937	0.92[CEU][hapmap]
rs1056021	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.94[ASN][1000 genomes]
rs11124569	0.96[CEU][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11124574	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11124578	0.83[CHB][hapmap]
rs1137437	0.92[CEU][hapmap]
rs1158218	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]
rs1158219	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11679617	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11680401	0.81[EUR][1000 genomes]
rs11682607	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11683872	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11685805	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11689794	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11693917	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11893943	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12616151	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618410	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12712532	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13015451	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13030789	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13420463	0.88[ASN][1000 genomes]
rs1477055	0.90[JPT][hapmap]
rs17020386	0.83[ASN][1000 genomes]
rs17020479	1.00[YRI][hapmap]
rs17020490	0.81[ASN][1000 genomes]
rs1989172	0.83[ASN][1000 genomes]
rs2268987	0.81[ASN][1000 genomes]
rs2287093	0.89[CEU][hapmap]
rs2300884	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2300893	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2372993	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2373000	1.00[YRI][hapmap]
rs2888434	0.96[CEU][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3213745	0.96[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34819784	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3755195	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3770752	0.96[CEU][hapmap]
rs3770754	0.80[CEU][hapmap]
rs3770759	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4581878	0.81[ASN][1000 genomes]
rs4670195	0.80[CHB][hapmap]
rs4670688	0.89[JPT][hapmap]
rs4998429	0.96[CEU][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57361399	0.83[ASN][1000 genomes]
rs6544066	0.85[CHB][hapmap]
rs6743782	0.85[CEU][hapmap]
rs71398224	0.81[ASN][1000 genomes]
rs72792829	0.92[ASN][1000 genomes]
rs74177070	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7563610	0.84[EUR][1000 genomes]
rs7568510	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7570547	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7584565	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7589296	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs876462	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs9309004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2041836	CEBPZ	cis	normal skin	skin_eQTL
rs2041836	CEBPZ	cis	Esophagus Mucosa	GTEx
rs2041836	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL
rs2041836	CEBPZ	cis	Nerve Tibial	GTEx
rs2041836	CEBPZ	cis	Adipose Subcutaneous	GTEx

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	chr2:37502200-37509800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:37502200-37510200	Weak transcription	Placenta	Placenta
44	chr2:37502200-37528200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:37502200-37528600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:37502400-37510000	Weak transcription	HSMMtube	muscle
47	chr2:37502400-37516200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:37502600-37510400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:37502600-37513200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:37502600-37514600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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