Variant report

Variant	rs12275002
Chromosome Location	chr11:18155923-18155924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11024499	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274666	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282203	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287613	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287904	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28624183	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28628238	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3993319	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4469871	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4998968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60467549	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7115029	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118799	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7936675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7939012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	esv11709	chr11:18138662-18200717	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv971990	chr11:18153921-18164912	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18150400-18156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18154200-18156800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:18154600-18156000	Weak transcription	NHEK	skin
4	chr11:18155000-18156000	Weak transcription	Esophagus	oesophagus
5	chr11:18155600-18156400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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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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