Variant report

Variant	rs16978492
Chromosome Location	chr18:43347889-43347890
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11872710	1.00[EUR][1000 genomes]
rs11872746	1.00[EUR][1000 genomes]
rs11872802	1.00[EUR][1000 genomes]
rs11873365	1.00[EUR][1000 genomes]
rs11875230	1.00[EUR][1000 genomes]
rs11877436	1.00[EUR][1000 genomes]
rs16978476	1.00[EUR][1000 genomes]
rs16978493	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16978494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16978505	1.00[EUR][1000 genomes]
rs28366995	1.00[EUR][1000 genomes]
rs28372661	1.00[EUR][1000 genomes]
rs28438661	1.00[EUR][1000 genomes]
rs28450604	1.00[EUR][1000 genomes]
rs28460769	1.00[EUR][1000 genomes]
rs28461979	1.00[EUR][1000 genomes]
rs28483450	1.00[EUR][1000 genomes]
rs28504009	1.00[EUR][1000 genomes]
rs28563782	1.00[EUR][1000 genomes]
rs28605020	1.00[EUR][1000 genomes]
rs28669237	1.00[EUR][1000 genomes]
rs28698347	1.00[EUR][1000 genomes]
rs28757795	1.00[EUR][1000 genomes]
rs28898876	1.00[EUR][1000 genomes]
rs28898881	1.00[EUR][1000 genomes]
rs28898882	1.00[EUR][1000 genomes]
rs28898887	1.00[EUR][1000 genomes]
rs28898895	1.00[EUR][1000 genomes]
rs28994273	1.00[EUR][1000 genomes]
rs28994285	1.00[EUR][1000 genomes]
rs28994287	1.00[EUR][1000 genomes]
rs28994295	1.00[EUR][1000 genomes]
rs34674177	1.00[EUR][1000 genomes]
rs515596	1.00[EUR][1000 genomes]
rs56193937	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7228878	1.00[EUR][1000 genomes]
rs7229410	1.00[EUR][1000 genomes]
rs7236728	1.00[EUR][1000 genomes]
rs7242125	1.00[EUR][1000 genomes]
rs7243454	1.00[EUR][1000 genomes]
rs73953681	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084290	1.00[EUR][1000 genomes]
rs8089544	1.00[EUR][1000 genomes]
rs8089798	1.00[EUR][1000 genomes]
rs8089860	1.00[EUR][1000 genomes]
rs8090934	1.00[EUR][1000 genomes]
rs8094456	1.00[EUR][1000 genomes]
rs9946629	1.00[EUR][1000 genomes]
rs9946802	1.00[EUR][1000 genomes]
rs9947795	1.00[EUR][1000 genomes]
rs9948555	1.00[EUR][1000 genomes]
rs9948715	1.00[EUR][1000 genomes]
rs9951978	1.00[EUR][1000 genomes]
rs9953484	1.00[EUR][1000 genomes]
rs9954523	1.00[EUR][1000 genomes]
rs9955015	1.00[EUR][1000 genomes]
rs9957147	1.00[EUR][1000 genomes]
rs9957464	1.00[EUR][1000 genomes]
rs9957999	1.00[EUR][1000 genomes]
rs9958360	1.00[EUR][1000 genomes]
rs9958987	1.00[EUR][1000 genomes]
rs9959151	1.00[EUR][1000 genomes]
rs9959239	1.00[EUR][1000 genomes]
rs9960635	1.00[EUR][1000 genomes]
rs9961926	1.00[EUR][1000 genomes]
rs9964753	1.00[EUR][1000 genomes]
rs9964968	1.00[EUR][1000 genomes]
rs9965236	1.00[EUR][1000 genomes]
rs9965728	1.00[EUR][1000 genomes]
rs9966061	1.00[EUR][1000 genomes]
rs9967557	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43336400-43351400	Weak transcription	HSMM	muscle
2	chr18:43337200-43354600	Weak transcription	Aorta	Aorta
3	chr18:43341000-43348400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:43341000-43354400	Weak transcription	Gastric	stomach
5	chr18:43344600-43353600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr18:43344800-43354400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:43345000-43353600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:43346000-43351400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:43346000-43351600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:43346200-43349800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:43346200-43351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:43346200-43351200	Weak transcription	Osteobl	bone
13	chr18:43346200-43351400	Weak transcription	NH-A	brain
14	chr18:43346200-43351600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:43346200-43351600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:43346400-43351200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:43346400-43352800	Weak transcription	HMEC	breast
18	chr18:43346400-43353800	Weak transcription	NHDF-Ad	bronchial
19	chr18:43347800-43348000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:43347800-43348400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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