Variant report

Variant	rs59423833
Chromosome Location	chr12:42845425-42845426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:42842683-42845517	K562	blood:	n/a	n/a
2	POLR2A	chr12:42843068-42845640	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:42845184-42845571	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000207142	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1037401	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1139095	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830387	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832838	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300188	0.85[ASN][1000 genomes]
rs17091061	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17091083	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091094	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091117	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17091138	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091141	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091163	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091193	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091220	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17091226	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17121217	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1962526	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987127	0.88[ASN][1000 genomes]
rs2305423	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406676	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406677	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747559	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810787	0.80[EUR][1000 genomes]
rs3911246	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57447201	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57653125	0.84[AMR][1000 genomes]
rs58594062	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59402225	0.88[EUR][1000 genomes]
rs59501472	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60092940	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60598518	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60659836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67128387	0.90[EUR][1000 genomes]
rs67217830	0.85[EUR][1000 genomes]
rs73116432	0.88[ASN][1000 genomes]
rs73116492	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73118486	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118500	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73120410	0.88[EUR][1000 genomes]
rs73120468	0.88[EUR][1000 genomes]
rs73120476	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120499	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124406	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124495	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73126404	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126412	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126433	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73126453	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[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
rs59423833	ZCRB1	cis	multi-tissue	Pritchard

Chromatin state (count:108 , 50 per page) page: 1 2 3

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	chr12:42820200-42853000	Weak transcription	Fetal Heart	heart
5	chr12:42826400-42859000	Weak transcription	Fetal Brain Male	brain
6	chr12:42826600-42858200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
8	chr12:42834200-42859600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
10	chr12:42836600-42853000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:42836800-42853000	Weak transcription	Right Ventricle	heart
12	chr12:42836800-42858800	Weak transcription	Brain Angular Gyrus	brain
13	chr12:42837000-42853200	Weak transcription	NHEK	skin
14	chr12:42837000-42853800	Weak transcription	Lung	lung
15	chr12:42837000-42858000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:42837000-42858000	Weak transcription	Aorta	Aorta
17	chr12:42837000-42858200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
19	chr12:42837200-42863200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:42837400-42848000	Weak transcription	HepG2	liver
21	chr12:42838400-42858000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:42838600-42850000	Weak transcription	HSMMtube	muscle
23	chr12:42838600-42853200	Weak transcription	Brain Anterior Caudate	brain
24	chr12:42839600-42846000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:42839800-42853000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:42840000-42856400	Weak transcription	Fetal Intestine Small	intestine
27	chr12:42840400-42850200	Weak transcription	Left Ventricle	heart
28	chr12:42840400-42860800	Weak transcription	Colonic Mucosa	Colon
29	chr12:42840600-42852800	Weak transcription	Adipose Nuclei	Adipose
30	chr12:42840600-42858000	Weak transcription	Placenta	Placenta
31	chr12:42840600-42860000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:42840800-42846200	Weak transcription	Liver	Liver
33	chr12:42840800-42847200	Weak transcription	K562	blood
34	chr12:42840800-42849400	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:42840800-42853200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:42840800-42853200	Weak transcription	Fetal Kidney	kidney
37	chr12:42840800-42858200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:42841000-42846400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:42841000-42849000	Enhancers	Primary B cells from cord blood	blood
40	chr12:42841000-42850200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:42841000-42853000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:42841000-42853000	Weak transcription	Spleen	Spleen
43	chr12:42841000-42853600	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:42841000-42858600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:42841200-42851800	Weak transcription	HMEC	breast
46	chr12:42841400-42847800	Weak transcription	Fetal Intestine Large	intestine
47	chr12:42841400-42856400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:42841400-42862000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:42841600-42846200	Weak transcription	NHDF-Ad	bronchial
50	chr12:42841600-42858400	Weak transcription	Fetal Brain Female	brain

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