Variant report

Variant	rs4645529
Chromosome Location	chr8:129855037-129855038
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11780321	0.89[EUR][1000 genomes]
rs11781488	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11783808	0.83[AFR][1000 genomes]
rs11786024	0.97[ASN][1000 genomes]
rs11989880	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11991292	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16903635	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17818346	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17818958	0.89[AFR][1000 genomes]
rs1879163	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1879164	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2139456	0.80[AFR][1000 genomes]
rs55788778	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58858133	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6996393	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72726589	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726590	0.88[AFR][1000 genomes]
rs72726600	0.99[EUR][1000 genomes]
rs7828412	0.89[EUR][1000 genomes]
rs9643240	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612212	chr8:129851646-129861039	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv612213	chr8:129851646-129862009	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv612214	chr8:129851646-129862252	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4645529	ASAP1	cis	cerebellum	SCAN
rs4645529	PHF20L1	cis	cerebellum	SCAN
rs4645529	HHLA1	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129843800-129863600	Weak transcription	Dnd41	blood
2	chr8:129848000-129857200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:129852200-129857200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:129853400-129856800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:129853400-129856800	Weak transcription	HSMM	muscle
6	chr8:129853400-129856800	Weak transcription	Osteobl	bone
7	chr8:129853400-129857000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:129853400-129857600	Weak transcription	NHLF	lung
9	chr8:129853600-129857000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:129853600-129857000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:129853600-129857000	Weak transcription	NHDF-Ad	bronchial
12	chr8:129853600-129857200	Weak transcription	HSMMtube	muscle
13	chr8:129854400-129857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:129854800-129856800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:129854800-129858400	Weak transcription	Brain Germinal Matrix	brain
16	chr8:129854800-129858600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:129854800-129858600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:129854800-129860000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:129854800-129860800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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