Variant report

Variant	rs1139095
Chromosome Location	chr12:42835527-42835528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1037401	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11830387	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832838	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297206	0.85[ASN][1000 genomes]
rs12300188	0.85[ASN][1000 genomes]
rs17091061	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17091083	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091094	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091117	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17091138	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091141	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091163	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091193	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091220	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17091226	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17121217	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1962526	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987127	0.88[ASN][1000 genomes]
rs2305423	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406676	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406677	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747559	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810787	0.83[EUR][1000 genomes]
rs3911246	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57447201	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57653125	0.80[AMR][1000 genomes]
rs58594062	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59402225	0.90[EUR][1000 genomes]
rs59423833	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59501472	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60092940	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60287587	0.83[ASN][1000 genomes]
rs60598518	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60659836	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67128387	0.87[EUR][1000 genomes]
rs67217830	0.83[EUR][1000 genomes]
rs73116432	0.88[ASN][1000 genomes]
rs73116492	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73118486	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118500	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73120410	0.90[EUR][1000 genomes]
rs73120468	0.90[EUR][1000 genomes]
rs73120476	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120499	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124406	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124495	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73126404	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126407	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126412	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126433	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73126453	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7961228	0.88[ASN][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
rs1139095	ZCRB1	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
3	chr12:42780200-42836000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:42783000-42836000	Weak transcription	Lung	lung
5	chr12:42785400-42836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:42789600-42836200	Weak transcription	Pancreas	Pancrea
7	chr12:42793800-42840400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:42795800-42836000	Weak transcription	Thymus	Thymus
9	chr12:42796000-42835800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:42796000-42836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:42796000-42836200	Weak transcription	Fetal Stomach	stomach
12	chr12:42796000-42836400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:42796000-42838000	Weak transcription	HSMMtube	muscle
14	chr12:42814200-42835600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:42814400-42835600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:42815400-42836000	Weak transcription	Ovary	ovary
17	chr12:42816200-42858200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:42816400-42836000	Weak transcription	NHLF	lung
19	chr12:42816800-42835800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:42816800-42840400	Weak transcription	Fetal Kidney	kidney
21	chr12:42816800-42862400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:42817000-42836600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:42817000-42840000	Weak transcription	NHDF-Ad	bronchial
24	chr12:42818000-42835600	Weak transcription	Placenta	Placenta
25	chr12:42818000-42836200	Weak transcription	Right Ventricle	heart
26	chr12:42818600-42835800	Weak transcription	Fetal Lung	lung
27	chr12:42818600-42836200	Weak transcription	Aorta	Aorta
28	chr12:42819800-42836200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:42820000-42858200	Weak transcription	Gastric	stomach
30	chr12:42820200-42853000	Weak transcription	Fetal Heart	heart
31	chr12:42820800-42836000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:42821000-42835800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:42821000-42844000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:42821200-42836600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:42821400-42836600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:42821400-42840200	Weak transcription	HUVEC	blood vessel
37	chr12:42822000-42836000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:42823600-42839600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:42823800-42840600	Weak transcription	NH-A	brain
40	chr12:42824200-42836000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:42824600-42835600	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:42826000-42836200	Weak transcription	Fetal Brain Female	brain
43	chr12:42826000-42836200	Weak transcription	Spleen	Spleen
44	chr12:42826000-42836400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:42826000-42842400	Weak transcription	HSMM	muscle
46	chr12:42826200-42835800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:42826200-42836000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:42826200-42840200	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:42826400-42836200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:42826400-42859000	Weak transcription	Fetal Brain Male	brain

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