Variant report

Variant	rs72819539
Chromosome Location	chr5:116190436-116190437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35160452	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59370217	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66814470	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6875549	0.91[AMR][1000 genomes];0.92[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	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1020292	chr5:116183712-116349633	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3411030	chr5:116189521-116191430	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116185200-116191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:116185200-116193800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:116185600-116191400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:116188600-116193200	Weak transcription	HepG2	liver
5	chr5:116188600-116194000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:116189600-116190600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:116189600-116191800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr5:116189800-116190600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:116189800-116190600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:116189800-116190800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:116189800-116190800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:116189800-116192800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:116190000-116190600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:116190200-116191400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:116190200-116191400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:116190200-116191600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:116190200-116198600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:116190400-116191400	Weak transcription	H9 Cell Line	embryonic stem cell

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

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