Variant report

Variant	rs12318401
Chromosome Location	chr12:42571915-42571916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10160853	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs11181360	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830387	0.83[ASN][1000 genomes]
rs11832838	0.83[ASN][1000 genomes]
rs12297206	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12300188	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12312515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315471	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317772	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091061	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs17091083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17091094	0.83[ASN][1000 genomes]
rs17091138	0.83[ASN][1000 genomes]
rs17091141	0.83[ASN][1000 genomes]
rs17091163	0.83[ASN][1000 genomes]
rs1962526	0.83[ASN][1000 genomes]
rs1987127	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305423	0.83[ASN][1000 genomes]
rs2406566	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406676	0.83[ASN][1000 genomes]
rs2406677	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs3747559	0.85[ASN][1000 genomes]
rs3810787	0.81[GIH][hapmap]
rs3911246	0.83[ASN][1000 genomes]
rs57447201	0.83[ASN][1000 genomes]
rs58594062	0.83[ASN][1000 genomes]
rs59876649	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60092940	0.88[ASN][1000 genomes]
rs60278477	1.00[EUR][1000 genomes]
rs60287587	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60598518	0.83[ASN][1000 genomes]
rs60870773	1.00[EUR][1000 genomes]
rs61647009	1.00[EUR][1000 genomes]
rs73114487	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114498	1.00[EUR][1000 genomes]
rs73116429	1.00[EUR][1000 genomes]
rs73116432	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73116441	1.00[EUR][1000 genomes]
rs73116492	0.85[ASN][1000 genomes]
rs73118486	0.83[ASN][1000 genomes]
rs73120476	0.83[ASN][1000 genomes]
rs73120499	0.83[ASN][1000 genomes]
rs73127416	1.00[EUR][1000 genomes]
rs73127418	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127421	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73127428	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73127435	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73127445	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73131138	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131166	1.00[EUR][1000 genomes]
rs7961228	0.94[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12318401	ZCRB1	cis	lymphoblastoid	seeQTL
rs12318401	ZCRB1	cis	multi-tissue	Pritchard

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42539400-42577000	Weak transcription	Aorta	Aorta
2	chr12:42539400-42583200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:42539600-42574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:42539600-42578400	Weak transcription	Left Ventricle	heart
5	chr12:42539600-42586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:42539800-42582800	Weak transcription	Spleen	Spleen
7	chr12:42539800-42607800	Weak transcription	Pancreas	Pancrea
8	chr12:42540000-42574800	Weak transcription	Brain Anterior Caudate	brain
9	chr12:42547800-42610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:42549400-42575000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:42550600-42615800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:42552000-42604000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:42552200-42574800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:42552200-42591200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:42552200-42613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:42552400-42620000	Weak transcription	Fetal Brain Female	brain
17	chr12:42552600-42578800	Weak transcription	Lung	lung
18	chr12:42553600-42590000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:42554000-42607600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:42554400-42578600	Weak transcription	Thymus	Thymus
21	chr12:42554600-42592200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:42555200-42572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:42555200-42574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:42555200-42575400	Weak transcription	NH-A	brain
26	chr12:42555200-42576400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:42555200-42586000	Weak transcription	Fetal Lung	lung
28	chr12:42555200-42590000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:42555400-42598000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:42555600-42586400	Weak transcription	Hela-S3	cervix
31	chr12:42556200-42578400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:42556600-42575000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:42556600-42578600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:42556800-42613200	Weak transcription	HMEC	breast
35	chr12:42557000-42581800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:42557000-42604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:42557200-42580400	Weak transcription	GM12878-XiMat	blood
38	chr12:42557200-42606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:42558000-42602400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:42561000-42580400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:42561400-42575000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:42563200-42608000	Weak transcription	Small Intestine	intestine
43	chr12:42565400-42587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:42566000-42588600	Weak transcription	Placenta	Placenta
45	chr12:42566400-42578400	Weak transcription	Liver	Liver
46	chr12:42567400-42572800	Weak transcription	Fetal Thymus	thymus
47	chr12:42567400-42574800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:42567600-42575200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:42567800-42573600	Weak transcription	Osteobl	bone
50	chr12:42567800-42574800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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