Variant report

Variant	rs4399165
Chromosome Location	chr1:221543377-221543378
allele	G/T
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:14)

rs_ID	r²[population]
rs10779432	1.00[AFR][1000 genomes]
rs10863606	1.00[AFR][1000 genomes]
rs10863608	1.00[AFR][1000 genomes]
rs10863609	1.00[AFR][1000 genomes]
rs12411237	1.00[AFR][1000 genomes]
rs3101202	0.84[AFR][1000 genomes]
rs3131540	1.00[AFR][1000 genomes]
rs3131541	0.86[AFR][1000 genomes]
rs4518911	1.00[AFR][1000 genomes]
rs4846711	0.86[AFR][1000 genomes]
rs4846713	1.00[AFR][1000 genomes]
rs6541194	1.00[AFR][1000 genomes]
rs6541195	1.00[AFR][1000 genomes]
rs7555947	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv947160	chr1:221533184-221544885	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221540400-221544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:221540800-221543400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:221542200-221554400	Weak transcription	NHDF-Ad	bronchial
4	chr1:221543000-221543400	ZNF genes & repeats	Pancreas	Pancrea

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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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