Variant report

Variant	rs16940207
Chromosome Location	chr15:58693211-58693212
allele	C/T
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:13)

rs_ID	r²[population]
rs13329503	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16940144	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16940188	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16940200	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs261285	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs28461450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28575432	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs414846	0.90[ASN][1000 genomes]
rs41502046	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs432029	0.90[ASN][1000 genomes]
rs58132803	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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 target site	50 gene(s)	inside rSNPs	diseases
3	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58681600-58693400	Weak transcription	Pancreas	Pancrea
2	chr15:58683600-58693600	Weak transcription	Spleen	Spleen
3	chr15:58689400-58694000	Weak transcription	HMEC	breast
4	chr15:58689400-58694000	Weak transcription	NHEK	skin
5	chr15:58689400-58694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:58689600-58694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:58689600-58694200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:58689800-58694400	Weak transcription	NHDF-Ad	bronchial
9	chr15:58690000-58694200	Weak transcription	Right Atrium	heart
10	chr15:58690400-58693800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:58690600-58693800	Weak transcription	Esophagus	oesophagus
12	chr15:58690600-58694200	Weak transcription	Fetal Stomach	stomach
13	chr15:58690600-58694200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:58690800-58702400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:58691200-58694400	Weak transcription	Placenta	Placenta
16	chr15:58691400-58697400	Enhancers	K562	blood
17	chr15:58692200-58695000	Enhancers	Liver	Liver

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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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