Variant report

Variant	rs56085830
Chromosome Location	chr17:15214991-15214992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12449310	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12452365	0.91[EUR][1000 genomes]
rs12452565	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12452683	0.91[EUR][1000 genomes]
rs16951345	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16951380	0.91[EUR][1000 genomes]
rs55683203	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58893387	0.91[EUR][1000 genomes]
rs7212138	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73977995	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73977999	0.83[EUR][1000 genomes]
rs73978000	0.83[EUR][1000 genomes]
rs73978002	0.91[EUR][1000 genomes]
rs8064719	0.81[AMR][1000 genomes]
rs8069939	0.91[EUR][1000 genomes]
rs8077862	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8079693	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8081188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15210400-15215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr17:15210400-15215600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr17:15210400-15216800	Weak transcription	Ovary	ovary
4	chr17:15210600-15215800	Weak transcription	Fetal Intestine Small	intestine
5	chr17:15213600-15226200	Weak transcription	Psoas Muscle	Psoas
6	chr17:15213800-15215400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr17:15213800-15215400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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