Variant report

Variant	rs2494183
Chromosome Location	chr1:210386585-210386586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10863816	0.89[ASN][1000 genomes]
rs1338298	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.84[YRI][hapmap];0.89[ASN][1000 genomes]
rs1342135	0.92[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs1473696	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2473813	0.85[ASN][1000 genomes]
rs2487903	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2487904	0.84[EUR][1000 genomes]
rs2494180	0.90[EUR][1000 genomes]
rs2494184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs654523	0.84[YRI][hapmap]
rs71571933	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534368	0.88[ASN][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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv526050	chr1:210381257-210386585	Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2494183	IRF6	cis	cerebellum	SCAN
rs2494183	TMEM81	cis	cerebellum	SCAN
rs2494183	SLC30A1	cis	cerebellum	SCAN
rs2494183	SYT14	cis	parietal	SCAN
rs2494183	SERTAD4	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210386200-210387400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:210386400-210386800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:210386400-210387000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:210386400-210387000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:210386400-210387000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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