Variant report

Variant	rs4343223
Chromosome Location	chr15:50326234-50326235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11070741	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2413997	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2414002	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2414004	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2414005	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2414006	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2414008	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4550392	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4583186	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4627270	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57498160	0.82[AMR][1000 genomes]
rs6493393	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6493394	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7165307	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7176999	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7179614	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8028408	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8041014	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9302151	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1530	chr15:50302524-50347616	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr15:50296800-50335200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:50297400-50334600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:50316600-50327400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:50321200-50343600	Weak transcription	Hela-S3	cervix
5	chr15:50323800-50331400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:50325000-50327600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr15:50325200-50334800	Strong transcription	Primary hematopoietic stem cells	blood
8	chr15:50325600-50326400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr15:50326000-50328000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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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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