Variant report

Variant	rs3000048
Chromosome Location	chr14:84904759-84904760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10144393	0.83[ASN][1000 genomes]
rs12431750	0.80[ASN][1000 genomes]
rs12880194	0.83[ASN][1000 genomes]
rs3000049	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4259973	0.80[ASN][1000 genomes]
rs4350506	0.82[ASN][1000 genomes]
rs4410004	0.83[ASN][1000 genomes]
rs4489939	0.83[ASN][1000 genomes]
rs4500652	0.81[ASN][1000 genomes]
rs7148496	0.83[ASN][1000 genomes]
rs7151303	0.81[ASN][1000 genomes]
rs7158947	0.83[ASN][1000 genomes]
rs7160613	0.80[ASN][1000 genomes]
rs71908900	0.83[ASN][1000 genomes]
rs8003576	0.82[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	esv2751288	chr14:84815330-85704047	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84903200-84908800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:84903800-84909000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:84904000-84908800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:84904000-84908800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:84904000-84912600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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