Variant report

Variant	rs10496625
Chromosome Location	chr2:124876342-124876343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10496623	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12614779	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12622072	1.00[ASW][hapmap];1.00[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap]
rs1371147	1.00[YRI][hapmap]
rs17010780	0.83[CHD][hapmap];1.00[YRI][hapmap]
rs17010809	1.00[ASW][hapmap];0.83[CHD][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17010810	1.00[YRI][hapmap]
rs17010817	1.00[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs17010819	1.00[YRI][hapmap]
rs17010881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010934	1.00[ASW][hapmap]
rs17010944	1.00[YRI][hapmap]
rs2699381	1.00[ASW][hapmap]
rs4848911	1.00[YRI][hapmap]
rs4848916	1.00[ASW][hapmap]
rs55718116	0.91[AFR][1000 genomes]
rs7585692	1.00[YRI][hapmap]
rs7591828	0.94[AMR][1000 genomes];0.95[EUR][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	nsv531408	chr2:124727329-125011247	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10496625	SNORD116-29	trans	lymphoblastoid	seeQTL
rs10496625	SNORD50A	trans	lymphoblastoid	seeQTL
rs10496625	SNORD78	trans	lymphoblastoid	seeQTL
rs10496625	SNORD41	trans	lymphoblastoid	seeQTL
rs10496625	SNORD99	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:124870400-124876400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:124874200-124877000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:124876200-124876800	Enhancers	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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