Variant report

Variant	rs2004412
Chromosome Location	chr11:18158347-18158348
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12291017	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468781	0.88[EUR][1000 genomes]
rs2468782	0.94[EUR][1000 genomes]
rs4619132	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55750405	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56272125	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58681728	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61882533	0.87[EUR][1000 genomes]
rs61884067	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61884068	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6486407	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67231939	0.80[AMR][1000 genomes];0.88[EUR][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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18156400-18161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:18157200-18165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	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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