Variant report

Variant	rs309894
Chromosome Location	chr4:48307177-48307178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12499164	0.91[AMR][1000 genomes]
rs12510551	0.91[AMR][1000 genomes]
rs12640519	1.00[AMR][1000 genomes]
rs12645266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13127675	0.91[AMR][1000 genomes]
rs16861281	0.82[AMR][1000 genomes]
rs1876835	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2055800	0.91[AMR][1000 genomes]
rs2352595	0.91[AMR][1000 genomes]
rs2464503	0.91[AMR][1000 genomes]
rs2704411	0.91[AMR][1000 genomes]
rs309882	0.97[AFR][1000 genomes]
rs309886	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309888	0.93[AFR][1000 genomes]
rs309889	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309893	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309896	0.94[AFR][1000 genomes]
rs365919	0.80[AFR][1000 genomes]
rs409176	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs419804	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4235154	0.91[AMR][1000 genomes]
rs436979	1.00[AMR][1000 genomes]
rs4478160	0.91[AMR][1000 genomes]
rs4695367	0.91[AMR][1000 genomes]
rs6447624	1.00[AMR][1000 genomes]
rs6819233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7661341	0.84[AMR][1000 genomes]
rs937952	1.00[AMR][1000 genomes]
rs9715362	0.98[AFR][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	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48300400-48309800	Weak transcription	Fetal Brain Male	brain
2	chr4:48307000-48307200	Flanking Active TSS	K562	blood
3	chr4:48307000-48308200	Enhancers	Fetal Brain Female	brain

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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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