Variant report

Variant	rs261227
Chromosome Location	chr5:95902989-95902990
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95901536..95903744-chr5:95906929..95910055,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1459841	0.88[ASN][1000 genomes]
rs155216	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs155217	0.90[EUR][1000 genomes]
rs155218	0.89[EUR][1000 genomes]
rs2570461	0.90[EUR][1000 genomes]
rs2570463	0.86[EUR][1000 genomes]
rs261223	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261226	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261238	0.81[EUR][1000 genomes]
rs261246	0.82[EUR][1000 genomes]
rs261995	0.93[EUR][1000 genomes]
rs261996	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs261997	0.87[EUR][1000 genomes]
rs261998	0.89[EUR][1000 genomes]
rs261999	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262000	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263377	0.94[EUR][1000 genomes]
rs263382	0.95[EUR][1000 genomes]
rs263383	0.95[EUR][1000 genomes]
rs263388	0.89[EUR][1000 genomes]
rs263389	0.85[EUR][1000 genomes]
rs263391	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs263397	0.85[EUR][1000 genomes]
rs2882360	0.82[AFR][1000 genomes];0.97[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
rs261227	PCSK1	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95898200-95903200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:95900200-95903400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:95901000-95903400	Enhancers	Osteobl	bone
4	chr5:95901000-95903600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:95901200-95903400	Enhancers	HSMMtube	muscle
6	chr5:95901200-95903600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:95901200-95903600	Enhancers	HSMM	muscle
8	chr5:95901200-95904000	Enhancers	NH-A	brain
9	chr5:95901400-95903000	Enhancers	Brain Hippocampus Middle	brain
10	chr5:95901400-95903200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:95901400-95903200	Enhancers	Brain Anterior Caudate	brain
12	chr5:95901400-95903400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:95901400-95903400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:95901400-95903400	Enhancers	HMEC	breast
15	chr5:95901600-95903800	Enhancers	Hela-S3	cervix
16	chr5:95901800-95903000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:95901800-95903000	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:95901800-95903400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:95901800-95903800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:95901800-95903800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:95902000-95903200	Flanking Active TSS	GM12878-XiMat	blood
22	chr5:95902000-95908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:95902200-95903000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:95902200-95903000	Flanking Active TSS	NHDF-Ad	bronchial
25	chr5:95902200-95903200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr5:95902200-95903800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:95902400-95903000	Flanking Active TSS	NHEK	skin
28	chr5:95902400-95905400	Weak transcription	A549	lung
29	chr5:95902600-95903000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:95902600-95903000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:95902600-95903000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:95902600-95903000	Flanking Active TSS	NHLF	lung
33	chr5:95902600-95903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:95902600-95903200	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:95902600-95903200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:95902600-95903200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr5:95902600-95903200	Enhancers	Ovary	ovary
38	chr5:95902600-95903200	Flanking Active TSS	Dnd41	blood
39	chr5:95902600-95903600	Flanking Active TSS	HUVEC	blood vessel
40	chr5:95902800-95903000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:95902800-95903000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr5:95902800-95903000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:95902800-95903200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:95902800-95903200	Enhancers	Primary B cells from peripheral blood	blood
45	chr5:95902800-95903400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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