Variant report

Variant	rs17115572
Chromosome Location	chr12:76129826-76129827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17115579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58840103	1.00[AMR][1000 genomes]
rs73376993	1.00[AMR][1000 genomes]
rs73377001	1.00[AMR][1000 genomes]
rs73378905	1.00[AMR][1000 genomes]
rs73378919	1.00[AMR][1000 genomes]
rs74109660	0.89[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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv559422	chr12:76129356-76168066	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 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	chr12:76121600-76132200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:76127800-76131000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:76127800-76138400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:76128600-76132400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:76129200-76130600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:76129400-76130000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:76129400-76130000	Enhancers	Hela-S3	cervix
8	chr12:76129400-76130200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:76129400-76130200	Enhancers	Liver	Liver
10	chr12:76129400-76130400	Enhancers	HMEC	breast
11	chr12:76129400-76131600	Enhancers	HepG2	liver
12	chr12:76129600-76130000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:76129600-76130000	Enhancers	Right Ventricle	heart
14	chr12:76129600-76130200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:76129600-76130400	Enhancers	NHEK	skin
16	chr12:76129800-76130200	Enhancers	Pancreas	Pancrea
17	chr12:76129800-76131600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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