Variant report

Variant	rs346223
Chromosome Location	chr18:40024947-40024948
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1036836	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1156542	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1372762	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1372763	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1431834	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168300	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173196	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[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	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs180832	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs189389	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs189390	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2336238	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs237970	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237972	0.81[EUR][1000 genomes]
rs2584798	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28760399	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346182	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346183	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346184	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346185	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346186	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346187	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346188	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346189	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346190	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346191	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346192	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346193	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346194	0.88[EUR][1000 genomes]
rs346196	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346197	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346212	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346214	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs346215	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346217	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346218	0.83[EUR][1000 genomes]
rs346222	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346224	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs346225	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs346238	0.81[EUR][1000 genomes]
rs346261	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346263	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346264	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346265	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346266	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346267	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346268	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346269	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346270	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346271	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346438	0.83[EUR][1000 genomes]
rs346439	0.83[EUR][1000 genomes]
rs346441	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs346442	0.81[EUR][1000 genomes]
rs346443	0.82[EUR][1000 genomes]
rs346444	0.81[EUR][1000 genomes]
rs400064	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs410555	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417913	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421138	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs431856	0.84[EUR][1000 genomes]
rs437300	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs437823	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441362	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs445364	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675137	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7226753	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7239965	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7241409	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72903133	0.84[EUR][1000 genomes]
rs72903135	0.85[EUR][1000 genomes]
rs971293	0.90[AMR][1000 genomes];1.00[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40022400-40027200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:40023600-40025000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:40023600-40027200	Enhancers	HepG2	liver
4	chr18:40024000-40026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:40024000-40026800	Enhancers	NHDF-Ad	bronchial
6	chr18:40024000-40027000	Enhancers	HSMMtube	muscle
7	chr18:40024400-40026600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr18:40024800-40025600	Weak transcription	HSMM	muscle

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