Variant report

Variant	rs8058843
Chromosome Location	chr16:47922912-47922913
allele	C/T
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]
rs8057350	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47917600-47923800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr16:47918800-47923400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:47918800-47926600	Weak transcription	Fetal Brain Female	brain
4	chr16:47919400-47923800	Weak transcription	Fetal Brain Male	brain
5	chr16:47920200-47923000	Enhancers	NHEK	skin
6	chr16:47920600-47923600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:47921600-47931400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:47921800-47923800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr16:47922000-47923000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:47922000-47923000	Enhancers	HepG2	liver
11	chr16:47922000-47924000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr16:47922200-47923800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr16:47922200-47926200	Weak transcription	Brain Germinal Matrix	brain
14	chr16:47922400-47923000	Weak transcription	Ovary	ovary
15	chr16:47922600-47923000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:47922600-47923000	Enhancers	A549	lung
17	chr16:47922800-47923200	Weak transcription	Osteobl	bone
18	chr16:47922800-47923600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:47922800-47923800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr16:47922800-47923800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:47922800-47923800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:47922800-47930800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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