Variant report

Variant	rs13269801
Chromosome Location	chr8:130454037-130454038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10099692	0.80[MEX][hapmap]
rs10956477	0.87[GIH][hapmap];0.90[TSI][hapmap]
rs12543679	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548661	0.92[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13259353	0.97[GIH][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap]
rs13262640	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1368139	0.87[GIH][hapmap];0.90[TSI][hapmap]
rs16904062	0.92[ASW][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.81[AFR][1000 genomes]
rs16904064	0.92[ASW][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap]
rs1813473	0.97[GIH][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap]
rs1897447	0.80[MEX][hapmap]
rs970451	0.84[MEX][hapmap]
rs985687	0.81[AMR][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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13269801	PHF20L1	cis	cerebellum	SCAN
rs13269801	OC90	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130448600-130458800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:130451400-130462000	Weak transcription	Thymus	Thymus
3	chr8:130452000-130454200	Genic enhancers	K562	blood
4	chr8:130452400-130458200	Weak transcription	Fetal Thymus	thymus
5	chr8:130452600-130457800	Weak transcription	Dnd41	blood
6	chr8:130453800-130457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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