Variant report

Variant	rs56208243
Chromosome Location	chr15:58691227-58691228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12439062	1.00[EUR][1000 genomes]
rs16940241	1.00[EUR][1000 genomes]
rs1838505	1.00[EUR][1000 genomes]
rs659556	1.00[EUR][1000 genomes]
rs74018454	1.00[EUR][1000 genomes]
rs8024136	1.00[EUR][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:18 , 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	chr15:58686200-58692200	Weak transcription	Liver	Liver
4	chr15:58686200-58693000	Weak transcription	Fetal Kidney	kidney
5	chr15:58689400-58694000	Weak transcription	HMEC	breast
6	chr15:58689400-58694000	Weak transcription	NHEK	skin
7	chr15:58689400-58694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:58689600-58694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:58689600-58694200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:58689800-58694400	Weak transcription	NHDF-Ad	bronchial
11	chr15:58690000-58694200	Weak transcription	Right Atrium	heart
12	chr15:58690400-58693800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:58690600-58693800	Weak transcription	Esophagus	oesophagus
14	chr15:58690600-58694200	Weak transcription	Fetal Stomach	stomach
15	chr15:58690600-58694200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:58690800-58702400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:58691000-58691400	Weak transcription	K562	blood
18	chr15:58691200-58694400	Weak transcription	Placenta	Placenta

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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