Variant report

Variant	rs72813970
Chromosome Location	chr2:58787801-58787802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11679573	1.00[AMR][1000 genomes]
rs72813963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72815812	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	nsv1012213	chr2:58671881-58893730	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv535736	chr2:58671881-58893730	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv874203	chr2:58696996-58820417	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58781200-58789200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:58785000-58788400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:58785400-58789800	Weak transcription	Fetal Brain Female	brain
4	chr2:58786000-58789000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:58786600-58795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:58787200-58788000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:58787400-58788000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:58787800-58788000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:58787800-58788600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:58787800-58795600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:58787800-58795800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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