Variant report

Variant	rs16904062
Chromosome Location	chr8:130397821-130397822
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10956477	0.95[CEU][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11781612	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12548661	0.85[ASW][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap]
rs13259353	0.95[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13269801	0.92[ASW][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.81[AFR][1000 genomes]
rs1368139	0.95[CEU][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904064	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1813473	0.95[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28759297	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35938360	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62523717	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs985687	0.95[CEU][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16904062	PHF20L1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130394600-130399000	Enhancers	Dnd41	blood
2	chr8:130394600-130401000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:130394800-130399200	Enhancers	Fetal Thymus	thymus
4	chr8:130394800-130411800	Strong transcription	K562	blood
5	chr8:130395600-130399400	Enhancers	Thymus	Thymus
6	chr8:130397800-130401000	Weak transcription	Foreskin Melanocyte 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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