Variant report

Variant	rs261226
Chromosome Location	chr5:95901892-95901893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95901536..95903744-chr5:95906929..95910055,4	K562	blood:
2	chr5:95899443..95902123-chr5:95903366..95905587,2	K562	blood:
3	chr5:95900753..95902710-chr5:95911311..95913680,2	K562	blood:

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];0.95[EUR][1000 genomes]
rs155218	0.91[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2570461	0.84[EUR][1000 genomes]
rs261223	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261227	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261238	0.87[EUR][1000 genomes]
rs261246	0.88[EUR][1000 genomes]
rs261995	0.83[EUR][1000 genomes]
rs261996	0.90[EUR][1000 genomes]
rs261997	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs261998	0.89[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs261999	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262000	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[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	0.95[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
rs261226	PCSK1	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95897800-95902600	Enhancers	HUVEC	blood vessel
2	chr5:95898200-95903200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:95899600-95902600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:95900200-95903400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:95901000-95903400	Enhancers	Osteobl	bone
6	chr5:95901000-95903600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:95901200-95902000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr5:95901200-95902200	Enhancers	NHDF-Ad	bronchial
9	chr5:95901200-95902400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr5:95901200-95902600	Enhancers	NHLF	lung
11	chr5:95901200-95902800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:95901200-95903400	Enhancers	HSMMtube	muscle
13	chr5:95901200-95903600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:95901200-95903600	Enhancers	HSMM	muscle
15	chr5:95901200-95904000	Enhancers	NH-A	brain
16	chr5:95901400-95902000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr5:95901400-95902200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:95901400-95902200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:95901400-95902400	Enhancers	A549	lung
20	chr5:95901400-95903000	Enhancers	Brain Hippocampus Middle	brain
21	chr5:95901400-95903200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:95901400-95903200	Enhancers	Brain Anterior Caudate	brain
23	chr5:95901400-95903400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:95901400-95903400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr5:95901400-95903400	Enhancers	HMEC	breast
26	chr5:95901600-95902000	Enhancers	Fetal Brain Male	brain
27	chr5:95901600-95902000	Enhancers	GM12878-XiMat	blood
28	chr5:95901600-95902200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:95901600-95902400	Enhancers	NHEK	skin
30	chr5:95901600-95902600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:95901600-95902600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:95901600-95903800	Enhancers	Hela-S3	cervix
33	chr5:95901800-95902400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:95901800-95902600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:95901800-95902600	Enhancers	Dnd41	blood
36	chr5:95901800-95902800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr5:95901800-95903000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:95901800-95903000	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:95901800-95903400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:95901800-95903800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:95901800-95903800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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