Variant report

Variant	rs421321
Chromosome Location	chr5:63300089-63300090
allele	A/C
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:15)

rs_ID	r²[population]
rs10042486	0.86[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10062933	0.81[EUR][1000 genomes]
rs1423691	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2934803	0.85[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs358528	0.82[EUR][1000 genomes]
rs378864	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs428731	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6295	0.84[EUR][1000 genomes]
rs6449693	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6878612	0.86[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7448318	0.85[ASN][1000 genomes]
rs749099	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7715837	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs878567	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs970453	0.84[EUR][1000 genomes];0.84[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	nsv598351	chr5:63124140-63751144	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs421321	RNF180	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:63299800-63300200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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