Variant report

Variant	rs1458382
Chromosome Location	chr11:86263113-86263114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86262717..86264689-chr11:86268387..86270580,2	K562	blood:
2	chr11:86262717..86267306-chr11:86267852..86270580,5	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10792857	0.83[CHB][hapmap]
rs10792858	0.83[ASN][1000 genomes]
rs10898500	0.83[ASN][1000 genomes]
rs10898501	0.95[JPT][hapmap]
rs12287767	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1350478	0.83[CHB][hapmap]
rs17211115	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1945036	0.95[JPT][hapmap]
rs4144867	0.95[JPT][hapmap]
rs4391846	0.95[JPT][hapmap]
rs4943946	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4944595	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4944596	0.95[JPT][hapmap]
rs7103271	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7109521	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7126810	0.81[ASN][1000 genomes]
rs7127944	0.95[JPT][hapmap]
rs7130902	0.83[ASN][1000 genomes]
rs7924879	0.84[ASN][1000 genomes]
rs7951185	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1458382	PRSS23	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86258800-86263400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:86258800-86263400	Enhancers	Fetal Brain Male	brain
3	chr11:86258800-86263400	Enhancers	Psoas Muscle	Psoas
4	chr11:86258800-86264600	Enhancers	Right Atrium	heart
5	chr11:86259000-86263200	Weak transcription	Brain Germinal Matrix	brain
6	chr11:86259200-86264400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:86259600-86269800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:86259600-86270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:86259600-86270800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:86259800-86270800	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:86260000-86263400	Weak transcription	Fetal Stomach	stomach
12	chr11:86260000-86264000	Enhancers	Fetal Intestine Small	intestine
13	chr11:86260000-86266200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:86260000-86268800	Weak transcription	Fetal Kidney	kidney
15	chr11:86260000-86270200	Weak transcription	Brain Angular Gyrus	brain
16	chr11:86260000-86270200	Weak transcription	Brain Substantia Nigra	brain
17	chr11:86260200-86264000	Weak transcription	Brain Anterior Caudate	brain
18	chr11:86260400-86263400	Enhancers	Colon Smooth Muscle	Colon
19	chr11:86260400-86264200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:86260800-86265000	Enhancers	Fetal Intestine Large	intestine
21	chr11:86260800-86265000	Enhancers	Left Ventricle	heart
22	chr11:86260800-86265000	Enhancers	Pancreas	Pancrea
23	chr11:86261000-86264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:86261000-86265600	Weak transcription	Fetal Brain Female	brain
25	chr11:86261200-86270800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:86261400-86264200	Enhancers	Lung	lung
27	chr11:86261400-86264400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:86261400-86264400	Enhancers	Spleen	Spleen
29	chr11:86261600-86263200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:86261600-86263200	Enhancers	Gastric	stomach
31	chr11:86261600-86263200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:86261600-86263200	Enhancers	NHLF	lung
33	chr11:86261600-86263400	Enhancers	NH-A	brain
34	chr11:86261600-86265000	Enhancers	Right Ventricle	heart
35	chr11:86261800-86263400	Enhancers	Osteobl	bone
36	chr11:86261800-86264200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:86261800-86265000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:86262000-86263200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:86262000-86263200	Enhancers	Adipose Nuclei	Adipose
40	chr11:86262000-86263200	Enhancers	Small Intestine	intestine
41	chr11:86262000-86263400	Enhancers	Hela-S3	cervix
42	chr11:86262000-86263800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:86262000-86264800	Enhancers	Stomach Mucosa	stomach
44	chr11:86262200-86263200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:86262200-86263200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:86262200-86263200	Enhancers	HSMMtube	muscle
47	chr11:86262200-86263200	Enhancers	K562	blood
48	chr11:86262200-86263200	Enhancers	NHDF-Ad	bronchial
49	chr11:86262200-86263400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:86262200-86263400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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