Variant report

Variant	rs72685660
Chromosome Location	chr1:113775193-113775194
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12125248	0.81[AFR][1000 genomes]
rs12129538	0.87[AFR][1000 genomes]
rs12130343	0.99[AFR][1000 genomes]
rs12130424	0.87[AFR][1000 genomes]
rs12130425	0.87[AFR][1000 genomes]
rs1324894	0.87[AFR][1000 genomes]
rs1324895	0.87[AFR][1000 genomes]
rs66542976	0.99[AFR][1000 genomes]
rs66791296	0.87[AFR][1000 genomes]
rs6682004	0.99[AFR][1000 genomes]
rs6698248	0.87[AFR][1000 genomes]
rs71659393	0.84[AFR][1000 genomes]
rs72685657	0.84[AFR][1000 genomes]
rs72685663	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs942618	0.99[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv520749	chr1:113772733-113781358	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 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	chr1:113761000-113790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:113774600-113775200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:113774600-113775400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:113774600-113775400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:113774600-113775600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:113774600-113775800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:113774800-113775200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:113774800-113775800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:113774800-113776000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:113774800-113776800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:113775000-113779200	Weak transcription	Fetal Intestine Large	intestine

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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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