Variant report

Variant	rs2048980
Chromosome Location	chr11:93801673-93801674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1518557	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1518558	1.00[AMR][1000 genomes]
rs1850655	1.00[AMR][1000 genomes]
rs1945782	0.85[AMR][1000 genomes]
rs1945783	0.85[AMR][1000 genomes]
rs2460043	1.00[AMR][1000 genomes]
rs2511377	1.00[AMR][1000 genomes]
rs983327	1.00[AMR][1000 genomes]
rs983328	1.00[AMR][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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93794800-93816400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:93797400-93801800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:93801600-93801800	Enhancers	Aorta	Aorta
4	chr11:93801600-93802400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:93801600-93802400	Enhancers	HMEC	breast
6	chr11:93801600-93802600	Enhancers	NHEK	skin

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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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