Variant report

Variant	rs57420820
Chromosome Location	chr5:95588035-95588036
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs4594875	0.86[AFR][1000 genomes]
rs57207208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58062605	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58558890	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58692306	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59091392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59443370	0.86[AFR][1000 genomes]
rs61032727	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134324	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134341	0.86[AFR][1000 genomes]
rs73134346	0.86[AFR][1000 genomes]
rs73134351	0.86[AFR][1000 genomes]
rs73134353	0.86[AFR][1000 genomes]
rs73136598	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138325	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138330	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138335	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138353	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138361	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138362	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138367	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138373	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138393	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144658	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144659	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144670	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144673	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144675	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144682	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144684	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7727999	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95583200-95590200	Weak transcription	A549	lung
2	chr5:95583200-95595200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:95583800-95588800	Weak transcription	NH-A	brain
4	chr5:95583800-95590800	Weak transcription	Aorta	Aorta
5	chr5:95583800-95595000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:95583800-95595000	Weak transcription	Psoas Muscle	Psoas
7	chr5:95584000-95588400	Weak transcription	Osteobl	bone
8	chr5:95584000-95590600	Weak transcription	HSMMtube	muscle
9	chr5:95584000-95592400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:95584200-95588200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:95584200-95588200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:95584200-95589000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:95584400-95588200	Weak transcription	HSMM	muscle
14	chr5:95584600-95590000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:95585000-95594600	Weak transcription	HepG2	liver
16	chr5:95585400-95590200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:95585400-95590800	Weak transcription	Fetal Lung	lung
18	chr5:95586200-95591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:95586200-95595000	Weak transcription	Pancreas	Pancrea
20	chr5:95586400-95588200	Weak transcription	NHEK	skin
21	chr5:95587600-95588400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr5:95587800-95595400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:95588000-95589600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:95588000-95590400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:95588000-95590800	Enhancers	Hela-S3	cervix
26	chr5:95588000-95592000	Enhancers	HMEC	breast

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