Variant report

Variant	rs2497378
Chromosome Location	chr11:58508087-58508088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10896850	0.96[YRI][hapmap]
rs1943278	0.82[AFR][1000 genomes]
rs2497373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2497380	0.95[YRI][hapmap]
rs2497383	0.83[AMR][1000 genomes]
rs2507841	0.96[YRI][hapmap]
rs2507843	0.83[AMR][1000 genomes]
rs2507844	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2509908	1.00[YRI][hapmap]
rs2509909	0.96[YRI][hapmap]
rs2509911	0.91[YRI][hapmap]

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	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58507200-58508200	Enhancers	HMEC	breast
2	chr11:58507400-58508200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:58507400-58508200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:58507800-58508200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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