Variant report

Variant	rs1414518
Chromosome Location	chr1:221091157-221091158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495156	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11118625	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11118626	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11584914	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11587049	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11590376	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12141189	0.82[AMR][1000 genomes]
rs1335914	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17597773	0.82[AMR][1000 genomes]
rs1889795	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4846670	0.96[EUR][1000 genomes]
rs55703860	0.96[EUR][1000 genomes]
rs56347111	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61819203	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7546886	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221089000-221096200	Weak transcription	Spleen	Spleen
2	chr1:221089200-221092200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:221089200-221093800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:221089200-221094800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:221089200-221095400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:221089600-221093400	Weak transcription	Liver	Liver
7	chr1:221090400-221092400	Enhancers	Fetal Lung	lung
8	chr1:221090600-221091400	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:221091000-221091600	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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