Variant report

Variant	rs3000777
Chromosome Location	chr1:227584651-227584652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10753434	0.82[EUR][1000 genomes]
rs10799412	0.82[EUR][1000 genomes]
rs10916133	0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs12022338	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3014272	0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3014274	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4233227	0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4294380	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4489522	0.81[EUR][1000 genomes]
rs4491034	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv873243	chr1:227581017-227617519	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227580200-227585000	Weak transcription	HUVEC	blood vessel
2	chr1:227583600-227584800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:227583600-227585400	Enhancers	Stomach Mucosa	stomach
4	chr1:227583600-227585400	Flanking Active TSS	K562	blood
5	chr1:227584200-227585200	Enhancers	Thymus	Thymus
6	chr1:227584200-227585400	Enhancers	Primary T cells from cord blood	blood
7	chr1:227584400-227584800	Enhancers	HepG2	liver
8	chr1:227584600-227585400	Enhancers	A549	lung

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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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