Variant report

Variant	rs261999
Chromosome Location	chr5:95899427-95899428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1459841	0.88[ASN][1000 genomes]
rs155216	0.89[EUR][1000 genomes]
rs155217	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs155218	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2570461	0.84[EUR][1000 genomes]
rs261223	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261226	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261227	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261238	0.86[EUR][1000 genomes]
rs261246	0.87[EUR][1000 genomes]
rs261995	0.83[EUR][1000 genomes]
rs261996	0.89[EUR][1000 genomes]
rs261997	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs261998	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs262000	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263377	0.88[EUR][1000 genomes]
rs263382	0.89[EUR][1000 genomes]
rs263383	0.89[EUR][1000 genomes]
rs263388	0.94[EUR][1000 genomes]
rs263391	0.87[EUR][1000 genomes]
rs2882360	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs261999	PCSK1	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95897800-95900600	Enhancers	Osteobl	bone
2	chr5:95897800-95902600	Enhancers	HUVEC	blood vessel
3	chr5:95898000-95899600	Enhancers	NHDF-Ad	bronchial
4	chr5:95898000-95900000	Enhancers	HSMM	muscle
5	chr5:95898200-95900000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:95898200-95903200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:95898400-95901400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:95898600-95901800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:95898800-95900000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:95898800-95900600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:95898800-95901200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:95898800-95901200	Weak transcription	NHLF	lung
13	chr5:95898800-95901400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:95898800-95901400	Weak transcription	A549	lung
15	chr5:95898800-95901600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:95898800-95901600	Weak transcription	Hela-S3	cervix
17	chr5:95898800-95901800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:95899200-95901200	Weak transcription	NH-A	brain
19	chr5:95899400-95899600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:95899400-95899600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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