Variant report

Variant	rs4953574
Chromosome Location	chr2:48656436-48656437
allele	A/G
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:17)

rs_ID	r²[population]
rs10184644	0.87[AMR][1000 genomes]
rs10185212	1.00[EUR][1000 genomes]
rs10865229	0.84[ASN][1000 genomes]
rs11677398	1.00[EUR][1000 genomes]
rs13386132	1.00[EUR][1000 genomes]
rs3811520	0.97[ASN][1000 genomes]
rs4328683	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4464333	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4952913	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4953585	1.00[EUR][1000 genomes]
rs4953590	0.87[EUR][1000 genomes]
rs6545040	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6756820	1.00[EUR][1000 genomes]
rs7355307	1.00[EUR][1000 genomes]
rs7557764	1.00[EUR][1000 genomes]
rs7577850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7584673	0.87[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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv524919	chr2:48649738-48658779	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48652000-48660200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:48653600-48661200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:48655800-48657400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:48655800-48660800	Weak transcription	HUES6 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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