Variant report

Variant	rs73550099
Chromosome Location	chr16:48445715-48445716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35374298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57503116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57937994	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60747434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60778835	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192772	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551446	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562044	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562047	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562067	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053521	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv1056931	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv542918	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	esv1795074	chr16:48418505-48459558	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
15	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr16:48429400-48446000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:48442000-48447200	Enhancers	Placenta	Placenta
3	chr16:48442600-48445800	Enhancers	Duodenum Mucosa	Duodenum
4	chr16:48444400-48445800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr16:48444400-48445800	Enhancers	Stomach Mucosa	stomach
6	chr16:48444600-48446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:48444600-48447400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:48444600-48447400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:48444600-48448000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:48444600-48448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:48444600-48460800	Weak transcription	Right Atrium	heart
12	chr16:48444800-48446600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:48444800-48447200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:48444800-48447200	Weak transcription	A549	lung
15	chr16:48444800-48447800	Weak transcription	Adipose Nuclei	Adipose
16	chr16:48444800-48448000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:48444800-48448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:48444800-48448000	Weak transcription	NHEK	skin
19	chr16:48445000-48446200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr16:48445000-48447800	Weak transcription	Hela-S3	cervix
21	chr16:48445200-48446200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:48445600-48447200	Weak transcription	Colonic Mucosa	Colon

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