Variant report

Variant	rs417913
Chromosome Location	chr18:39997582-39997583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1036836	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1156541	0.84[EUR][1000 genomes]
rs1156542	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1372762	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1372763	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1431834	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168300	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976124	0.86[AFR][1000 genomes]
rs173196	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs173199	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs180830	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs180831	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs180832	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs189389	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs189390	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2336238	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs237970	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2584798	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28760399	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346182	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346183	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346184	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346185	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346186	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346187	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346188	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346189	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346190	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346191	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346192	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346193	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346196	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346197	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346212	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346213	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346214	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs346215	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346217	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346222	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346223	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346224	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs346225	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs346261	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346263	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346264	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346265	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346266	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346267	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346268	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346269	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346270	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346271	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346438	0.83[EUR][1000 genomes]
rs346439	0.92[EUR][1000 genomes]
rs346441	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs346442	0.82[EUR][1000 genomes]
rs346443	0.90[EUR][1000 genomes]
rs346444	0.82[EUR][1000 genomes]
rs400064	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs410555	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421138	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs431856	0.93[EUR][1000 genomes]
rs437300	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs437823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441362	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs445364	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675137	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7226753	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7239965	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7241409	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72903133	0.84[EUR][1000 genomes]
rs72903135	0.85[EUR][1000 genomes]
rs8087636	0.88[AFR][1000 genomes]
rs971293	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv909572	chr18:39938510-40064000	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39995800-39998000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr18:39997000-39998000	Enhancers	Ovary	ovary
3	chr18:39997400-39997600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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