Variant report

Variant	rs1037401
Chromosome Location	chr12:42866709-42866710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42858838..42861541-chr12:42866075..42868198,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1139095	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11830387	0.81[EUR][1000 genomes]
rs11832838	0.81[EUR][1000 genomes]
rs17091061	0.82[CEU][hapmap];0.89[AMR][1000 genomes]
rs17091078	0.85[CHD][hapmap]
rs17091083	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17091094	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17091110	0.85[CHD][hapmap]
rs17091117	0.83[EUR][1000 genomes]
rs17091138	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17091141	0.82[CEU][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17091163	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17091193	0.82[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17091220	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17091226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17121217	0.85[EUR][1000 genomes]
rs17454476	1.00[GIH][hapmap]
rs1962526	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2305423	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2406676	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2406677	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3747559	0.85[AMR][1000 genomes]
rs3810787	0.82[ASW][hapmap];0.82[CEU][hapmap];0.90[TSI][hapmap]
rs3911246	0.82[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57447201	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58594062	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59423833	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59501472	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60092940	0.89[AMR][1000 genomes]
rs60598518	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60659836	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67128387	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67217830	0.92[EUR][1000 genomes]
rs73116492	0.89[AMR][1000 genomes]
rs73118486	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73118500	0.85[EUR][1000 genomes]
rs73120476	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73120499	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73124406	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73124495	0.85[EUR][1000 genomes]
rs73126404	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73126407	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73126412	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73126433	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73126453	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1037401	ZCRB1	cis	multi-tissue	Pritchard
rs1037401	ZCRB1	cis	lymphoblastoid	seeQTL
rs1037401	MADP-1	cis	multi-tissue	Pritchard
rs1037401	ZCRB1	cis	Lymphoblastoid	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
2	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
3	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
4	chr12:42853400-42869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:42854000-42868600	Weak transcription	Right Ventricle	heart
6	chr12:42854200-42867400	Weak transcription	NHLF	lung
7	chr12:42860200-42866800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:42860200-42868800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:42860200-42870400	Weak transcription	Pancreas	Pancrea
10	chr12:42860200-42876200	Weak transcription	Gastric	stomach
11	chr12:42861400-42876000	Weak transcription	Lung	lung
12	chr12:42862400-42867200	Genic enhancers	HUVEC	blood vessel
13	chr12:42862400-42867400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:42862800-42876000	Weak transcription	Aorta	Aorta
15	chr12:42863200-42868400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:42863200-42868800	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:42863400-42866800	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:42863400-42866800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:42863400-42867800	Enhancers	Fetal Kidney	kidney
20	chr12:42863400-42868800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:42863400-42869200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:42863400-42869600	Enhancers	Fetal Heart	heart
23	chr12:42863400-42874200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:42863400-42875600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:42863400-42876000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:42863600-42867200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:42863800-42866800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:42863800-42867600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:42864000-42868800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:42864000-42869000	Weak transcription	Small Intestine	intestine
31	chr12:42864200-42868200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:42864200-42868800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:42864400-42866800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:42864400-42866800	Weak transcription	Fetal Lung	lung
35	chr12:42864400-42867600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:42864400-42876000	Weak transcription	Spleen	Spleen
37	chr12:42864600-42867200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:42864600-42867400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:42864800-42867400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:42864800-42868800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:42864800-42875600	Weak transcription	Fetal Stomach	stomach
42	chr12:42865000-42869000	Weak transcription	Adipose Nuclei	Adipose
43	chr12:42865000-42869200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:42865200-42867200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:42865200-42868000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:42865200-42868800	Enhancers	Primary B cells from cord blood	blood
47	chr12:42865400-42867600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:42865600-42869200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:42865800-42867000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:42866000-42867000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links