Variant report

Variant	rs749099
Chromosome Location	chr5:63253836-63253837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10042486	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062933	0.96[EUR][1000 genomes]
rs1423691	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs358524	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs358526	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs358527	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs358528	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs378864	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs421321	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs428731	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6295	0.98[EUR][1000 genomes]
rs6449693	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6878612	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7448318	0.99[ASN][1000 genomes]
rs7715837	0.95[EUR][1000 genomes]
rs878567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs970453	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598351	chr5:63124140-63751144	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:63251600-63254000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:63252400-63254000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:63252600-63254000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:63252600-63254000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:63252600-63254000	Active TSS	Fetal Brain Female	brain
6	chr5:63252800-63254800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:63253200-63254000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:63253200-63254400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:63253200-63254600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:63253400-63254400	Weak transcription	H1 Cell Line	embryonic stem cell

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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

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