Variant report

Variant	rs8057350
Chromosome Location	chr16:47917240-47917241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11076577	1.00[AMR][1000 genomes]
rs16945483	1.00[AMR][1000 genomes]
rs16945540	1.00[AMR][1000 genomes]
rs1985323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4324153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6500353	0.90[AFR][1000 genomes]
rs6500354	0.90[AFR][1000 genomes]
rs7204738	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205450	0.88[AFR][1000 genomes]
rs8048189	0.88[AFR][1000 genomes]
rs8058843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063586	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925020	0.93[AFR][1000 genomes];1.00[AMR][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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47911600-47917400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:47911800-47917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:47913200-47920400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr16:47916000-47917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:47916000-47917600	Weak transcription	HMEC	breast
6	chr16:47916000-47920200	Weak transcription	NHEK	skin

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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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