Variant report

Variant	rs6034240
Chromosome Location	chr20:15622573-15622574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10485534	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2023385	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs4814395	0.81[JPT][hapmap]
rs55887936	0.94[ASN][1000 genomes]
rs6034241	0.94[ASN][1000 genomes]
rs6034242	0.94[ASN][1000 genomes]
rs6105447	0.92[CEU][hapmap]
rs6110707	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs6110708	0.83[ASN][1000 genomes]
rs6110719	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6110720	1.00[JPT][hapmap]
rs62196466	0.96[ASN][1000 genomes]
rs6514591	0.90[CHB][hapmap];0.81[JPT][hapmap]

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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2751909	chr20:15489871-15656007	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv833928	chr20:15619962-15780758	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6034240	PCSK2	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15617600-15629000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:15618800-15622600	Weak transcription	Aorta	Aorta
3	chr20:15619000-15622600	Weak transcription	Brain Substantia Nigra	brain
4	chr20:15619400-15622800	Weak transcription	Fetal Kidney	kidney
5	chr20:15619400-15629200	Weak transcription	Colon Smooth Muscle	Colon
6	chr20:15619400-15634600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr20:15621000-15623600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr20:15622000-15622800	Enhancers	Brain Hippocampus Middle	brain
9	chr20:15622000-15623200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr20:15622400-15623200	Enhancers	Brain Cingulate Gyrus	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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