Variant report

Variant	rs59402225
Chromosome Location	chr12:42815229-42815230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42810991..42812959-chr12:42814134..42816662,2	K562	blood:
2	chr12:42809536..42812114-chr12:42814472..42817319,3	K562	blood:
3	chr12:42791108..42793575-chr12:42814078..42816100,2	K562	blood:
4	chr12:42814393..42818074-chr12:42818334..42822097,5	K562	blood:

Variant related genes	Relation type
ENSG00000199886	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1139095	0.90[EUR][1000 genomes]
rs11830387	0.90[EUR][1000 genomes]
rs11832838	0.90[EUR][1000 genomes]
rs17091061	0.83[EUR][1000 genomes]
rs17091083	0.95[EUR][1000 genomes]
rs17091094	0.95[EUR][1000 genomes]
rs17091117	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17091138	0.95[EUR][1000 genomes]
rs17091141	0.95[EUR][1000 genomes]
rs17091163	0.95[EUR][1000 genomes]
rs17091193	0.95[EUR][1000 genomes]
rs17091220	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17121217	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1962526	0.95[EUR][1000 genomes]
rs2305423	0.95[EUR][1000 genomes]
rs2406676	0.95[EUR][1000 genomes]
rs2406677	0.95[EUR][1000 genomes]
rs3747559	0.88[EUR][1000 genomes]
rs3810787	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3911246	0.95[EUR][1000 genomes]
rs57447201	0.95[EUR][1000 genomes]
rs57653125	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58594062	0.95[EUR][1000 genomes]
rs59423833	0.88[EUR][1000 genomes]
rs59501472	0.90[EUR][1000 genomes]
rs60092940	0.83[EUR][1000 genomes]
rs60598518	0.95[EUR][1000 genomes]
rs60659836	0.95[EUR][1000 genomes]
rs73116429	0.83[ASN][1000 genomes]
rs73116441	0.90[ASN][1000 genomes]
rs73116492	0.83[EUR][1000 genomes]
rs73118486	0.90[EUR][1000 genomes]
rs73118500	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73120410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73120468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73120476	0.92[EUR][1000 genomes]
rs73120499	0.95[EUR][1000 genomes]
rs73124406	0.95[EUR][1000 genomes]
rs73124495	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126404	0.90[EUR][1000 genomes]
rs73126407	0.90[EUR][1000 genomes]
rs73126412	0.88[EUR][1000 genomes]
rs73126433	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59402225	ZCRB1	cis	multi-tissue	Pritchard

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
4	chr12:42770200-42815800	Weak transcription	Fetal Lung	lung
5	chr12:42770400-42816600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:42780200-42836000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:42783000-42836000	Weak transcription	Lung	lung
8	chr12:42785400-42836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:42789600-42836200	Weak transcription	Pancreas	Pancrea
10	chr12:42793800-42840400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:42795400-42834600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:42795600-42820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:42795600-42820600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:42795600-42825800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:42795600-42834400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:42795800-42821800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:42795800-42836000	Weak transcription	Thymus	Thymus
18	chr12:42796000-42819600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:42796000-42820400	Weak transcription	NHEK	skin
20	chr12:42796000-42823600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:42796000-42825600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:42796000-42825800	Weak transcription	Left Ventricle	heart
23	chr12:42796000-42833200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:42796000-42834400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:42796000-42835000	Weak transcription	HepG2	liver
26	chr12:42796000-42835800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:42796000-42836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:42796000-42836200	Weak transcription	Fetal Stomach	stomach
29	chr12:42796000-42836400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:42796000-42838000	Weak transcription	HSMMtube	muscle
31	chr12:42796200-42826000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:42796400-42815400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:42797000-42815800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:42797000-42820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:42799600-42815600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:42799600-42816000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:42799800-42820600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:42799800-42825400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:42801200-42823200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:42801400-42815400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:42801400-42817800	Weak transcription	Dnd41	blood
42	chr12:42801400-42825800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:42801600-42815600	Weak transcription	NHDF-Ad	bronchial
44	chr12:42801600-42820400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:42801600-42825600	Weak transcription	HSMM	muscle
46	chr12:42801800-42817800	Weak transcription	Fetal Thymus	thymus
47	chr12:42801800-42819600	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:42802000-42821800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:42802200-42821200	Weak transcription	Fetal Intestine Large	intestine
50	chr12:42802600-42823400	Weak transcription	Monocytes-CD14+_RO01746	blood

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