Variant report

Variant	rs72789778
Chromosome Location	chr5:117662295-117662296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55633336	1.00[EUR][1000 genomes]
rs55881437	1.00[EUR][1000 genomes]
rs55963232	1.00[EUR][1000 genomes]
rs56095356	1.00[EUR][1000 genomes]
rs56179806	1.00[EUR][1000 genomes]
rs56355100	1.00[EUR][1000 genomes]
rs56382495	1.00[EUR][1000 genomes]
rs56403439	1.00[EUR][1000 genomes]
rs72788079	1.00[EUR][1000 genomes]
rs72789774	1.00[EUR][1000 genomes]
rs72789776	1.00[EUR][1000 genomes]
rs72789780	1.00[EUR][1000 genomes]
rs72789781	1.00[EUR][1000 genomes]
rs72789782	1.00[EUR][1000 genomes]
rs72789783	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72789786	1.00[EUR][1000 genomes]
rs72789789	1.00[EUR][1000 genomes]
rs72789792	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027428	chr5:117072745-118036353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537877	chr5:117072745-118036353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1067621	chr5:117102544-118036352	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv531292	chr5:117102544-118036352	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422395	chr5:117442806-117887910	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv882762	chr5:117499480-117706786	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv432802	chr5:117612408-117921244	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv599527	chr5:117643335-117772695	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv599528	chr5:117643335-117780062	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024950	chr5:117648574-117718549	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117660000-117666000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:117661200-117662800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:117661200-117663000	Enhancers	NH-A	brain
4	chr5:117661400-117662400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:117661600-117662400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:117661600-117662600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:117661800-117662400	Enhancers	Stomach Smooth Muscle	stomach
8	chr5:117661800-117662600	Enhancers	Aorta	Aorta
9	chr5:117661800-117662800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:117662000-117662600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:117662000-117662800	Enhancers	Ovary	ovary
12	chr5:117662200-117662800	Enhancers	Osteobl	bone

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links