Variant report

Variant	rs13330477
Chromosome Location	chr16:48019436-48019437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12103023	0.90[AMR][1000 genomes]
rs13330065	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337029	0.90[AMR][1000 genomes]
rs28508022	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3887008	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3899422	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184685	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185342	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7190168	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7194254	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7196906	1.00[AMR][1000 genomes]
rs7198239	1.00[AMR][1000 genomes]
rs7199647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200033	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202404	0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016242	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016243	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016244	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016247	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016251	0.90[AMR][1000 genomes]
rs8044501	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053889	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056932	0.90[AMR][1000 genomes]
rs9923542	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934257	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935906	0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9938295	0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9939073	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9940106	0.83[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48017600-48021800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr16:48018200-48019600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:48018600-48019600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:48018600-48020200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:48018800-48020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:48019000-48021000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:48019200-48020600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:48019400-48019800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:48019400-48019800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr16:48019400-48020000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr16:48019400-48020600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr16:48019400-48021000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr16:48019400-48021000	Weak transcription	HMEC	breast

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