Variant report

Variant	rs59548988
Chromosome Location	chr7:38579635-38579636
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10237576	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2118462	0.83[ASN][1000 genomes]
rs2164838	0.90[ASN][1000 genomes]
rs41478945	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4385366	0.92[ASN][1000 genomes]
rs6942910	0.90[ASN][1000 genomes]
rs7778286	1.00[ASN][1000 genomes]
rs893412	0.84[ASN][1000 genomes]
rs920268	0.88[ASN][1000 genomes]
rs9638941	0.85[ASN][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	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1018890	chr7:38557432-38600944	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38564200-38580800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:38578400-38580200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:38579400-38580000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:38579400-38580200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:38579400-38580200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:38579400-38580200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:38579400-38580200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:38579400-38586800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:38579600-38580200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:38579600-38580200	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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