Variant report

Variant	rs17091220
Chromosome Location	chr12:42853213-42853214
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1037401	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1139095	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17091061	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs17091083	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091094	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091117	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17091138	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091141	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs17091163	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs17091193	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091226	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17121217	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17454476	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1962526	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2305423	0.83[EUR][1000 genomes]
rs2406676	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2406677	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3747559	0.80[AMR][1000 genomes]
rs3810787	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs3911246	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57447201	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57653125	0.89[AMR][1000 genomes]
rs58594062	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59402225	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs59423833	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59501472	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60092940	0.84[AMR][1000 genomes]
rs60598518	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60659836	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67128387	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67217830	0.90[EUR][1000 genomes]
rs73116492	0.84[AMR][1000 genomes]
rs73118486	0.84[AMR][1000 genomes]
rs73118500	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73120410	0.82[AMR][1000 genomes]
rs73120468	0.82[AMR][1000 genomes]
rs73120476	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73120499	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73122423	1.00[ASN][1000 genomes]
rs73124406	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73124495	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73126404	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73126407	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73126412	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73126433	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73126453	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv983461	chr12:42851064-42854179	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17091220	ZCRB1	cis	multi-tissue	Pritchard

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42816200-42858200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:42816800-42862400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:42820000-42858200	Weak transcription	Gastric	stomach
4	chr12:42826400-42859000	Weak transcription	Fetal Brain Male	brain
5	chr12:42826600-42858200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
7	chr12:42834200-42859600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
9	chr12:42836800-42858800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:42837000-42853800	Weak transcription	Lung	lung
11	chr12:42837000-42858000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:42837000-42858000	Weak transcription	Aorta	Aorta
13	chr12:42837000-42858200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
15	chr12:42837200-42863200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:42838400-42858000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:42840000-42856400	Weak transcription	Fetal Intestine Small	intestine
18	chr12:42840400-42860800	Weak transcription	Colonic Mucosa	Colon
19	chr12:42840600-42858000	Weak transcription	Placenta	Placenta
20	chr12:42840600-42860000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:42840800-42858200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:42841000-42853600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:42841000-42858600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:42841400-42856400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:42841400-42862000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:42841600-42858400	Weak transcription	Fetal Brain Female	brain
27	chr12:42841600-42862400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:42843000-42862400	Weak transcription	Fetal Thymus	thymus
29	chr12:42843200-42858200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:42843200-42858200	Weak transcription	Pancreas	Pancrea
31	chr12:42843200-42862000	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:42843600-42862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:42844000-42856400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:42844400-42858200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:42844800-42862600	Weak transcription	Primary T cells from cord blood	blood
36	chr12:42845000-42853800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:42845000-42857600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:42845200-42856400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:42848200-42853600	Weak transcription	Fetal Intestine Large	intestine
40	chr12:42849400-42864800	Strong transcription	Fetal Stomach	stomach
41	chr12:42850000-42860800	Strong transcription	HSMMtube	muscle
42	chr12:42850000-42866400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:42850200-42854000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:42850200-42855000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:42850200-42859800	Strong transcription	Primary B cells from cord blood	blood
46	chr12:42850200-42860600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:42850200-42862800	Strong transcription	NH-A	brain
48	chr12:42850200-42865000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:42850200-42865000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:42850200-42865800	Strong transcription	Osteobl	bone

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