Variant report

Variant	rs6563124
Chromosome Location	chr13:80201170-80201171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12872859	0.85[AFR][1000 genomes]
rs1998452	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2329127	0.89[AFR][1000 genomes]
rs2876745	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34629137	0.92[AFR][1000 genomes]
rs4335681	0.89[AFR][1000 genomes]
rs60407730	0.92[AFR][1000 genomes]
rs6563128	0.89[AFR][1000 genomes]
rs6563130	0.84[AFR][1000 genomes]
rs7324718	0.95[AFR][1000 genomes]
rs7329850	0.95[AFR][1000 genomes]
rs7330910	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7333099	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7333290	0.92[AFR][1000 genomes]
rs7335083	0.90[AFR][1000 genomes]
rs7985510	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7987038	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001082	0.88[AFR][1000 genomes]
rs9318646	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6563124	RBM26-AS1	cis	Esophagus Muscularis	GTEx
rs6563124	RBM26-AS1	cis	Thyroid	GTEx
rs6563124	RBM26-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80195600-80202200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80198600-80203800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:80198600-80205200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:80199400-80204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:80199600-80202200	Enhancers	HMEC	breast
6	chr13:80200400-80201600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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