Variant report

Variant	rs3986302
Chromosome Location	chr4:55690064-55690065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10434440	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs11133345	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12502927	0.85[ASN][1000 genomes]
rs12506337	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17763012	0.95[ASN][1000 genomes]
rs17763450	0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1846066	0.93[ASN][1000 genomes]
rs28436898	0.98[ASN][1000 genomes]
rs2899018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544770	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62304409	0.87[ASN][1000 genomes]
rs716918	0.85[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.92[TSI][hapmap];0.87[ASN][1000 genomes]
rs7674910	0.98[ASN][1000 genomes]
rs7695430	0.96[ASN][1000 genomes]
rs7699343	0.85[CEU][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7699719	0.85[JPT][hapmap];0.83[ASN][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	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3986302	PDCL2	cis	cerebellum	SCAN
rs3986302	SRD5A3	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55672400-55691000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:55687800-55690200	Weak transcription	Fetal Brain Male	brain
3	chr4:55688600-55690200	Weak transcription	Primary hematopoietic stem cells	blood

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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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