Variant report

Variant	rs1056194
Chromosome Location	chr11:86133784-86133785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10792854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898483	0.84[CHD][hapmap]
rs10898484	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11601917	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1563682	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[MEX][hapmap];0.88[ASN][1000 genomes]
rs2125362	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2125363	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2446230	0.82[MEX][hapmap]
rs3741004	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];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4412777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4544026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944575	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944580	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944581	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944583	0.89[ASN][1000 genomes]
rs601646	0.86[ASW][hapmap];0.84[LWK][hapmap];0.84[MKK][hapmap];0.81[AFR][1000 genomes]
rs610790	0.82[MEX][hapmap]
rs611730	0.82[MEX][hapmap]
rs621653	0.81[AFR][1000 genomes]
rs6592295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592296	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs660372	0.82[MEX][hapmap]
rs663208	0.86[ASW][hapmap];0.84[LWK][hapmap];0.82[MKK][hapmap]
rs664613	0.86[ASW][hapmap];0.84[LWK][hapmap];0.82[MKK][hapmap]
rs669325	0.86[ASW][hapmap];0.84[LWK][hapmap];0.82[MKK][hapmap]
rs7108055	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7109853	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[ASN][1000 genomes]
rs7122239	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[ASN][1000 genomes]
rs7122479	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[MEX][hapmap];0.88[ASN][1000 genomes]
rs7123773	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[MEX][hapmap];0.89[ASN][1000 genomes]
rs7941054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7946332	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1056194	PRSS23	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86106600-86134600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:86108600-86138600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:86117800-86142200	Weak transcription	Fetal Stomach	stomach
4	chr11:86118200-86151000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:86118400-86142800	Weak transcription	Left Ventricle	heart
6	chr11:86119400-86135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:86119600-86142200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:86123600-86136800	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:86124600-86142200	Weak transcription	Aorta	Aorta
10	chr11:86124800-86136600	Weak transcription	Brain Anterior Caudate	brain
11	chr11:86130400-86134600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:86131400-86142400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:86131600-86136000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:86132200-86142200	Weak transcription	Spleen	Spleen
15	chr11:86132600-86134600	Weak transcription	Fetal Lung	lung
16	chr11:86132800-86133800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:86132800-86135000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:86133000-86135400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86133200-86133800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:86133200-86134600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:86133200-86134800	Enhancers	Placenta	Placenta
22	chr11:86133200-86135200	Enhancers	Fetal Intestine Large	intestine
23	chr11:86133200-86135400	Enhancers	K562	blood
24	chr11:86133400-86134800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:86133600-86134000	Weak transcription	Ovary	ovary
26	chr11:86133600-86134600	Enhancers	Fetal Intestine Small	intestine

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