Variant report

Variant	rs2494251
Chromosome Location	chr1:159281151-159281152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10908709	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10908710	0.81[AFR][1000 genomes]
rs10908720	0.82[JPT][hapmap]
rs11265166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11265204	0.87[CHD][hapmap]
rs12145079	0.82[YRI][hapmap]
rs12724895	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2247584	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2251746	0.85[MKK][hapmap];1.00[YRI][hapmap]
rs2427836	0.89[ASW][hapmap];0.85[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2494262	0.93[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2494264	0.89[ASW][hapmap];0.82[CEU][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2511213	0.85[AFR][1000 genomes]
rs2511214	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2511215	0.82[AFR][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	nsv872487	chr1:159196765-159342439	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv872488	chr1:159218266-159336948	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2494251	CD5L	cis	cerebellum	SCAN
rs2494251	ARHGEF11	cis	cerebellum	SCAN
rs2494251	EFNA1	cis	cerebellum	SCAN
rs2494251	C1orf189	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159279200-159284400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:159279800-159284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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