Variant report

Variant	rs346443
Chromosome Location	chr18:39946015-39946016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1036836	0.84[EUR][1000 genomes]
rs1156542	0.83[EUR][1000 genomes]
rs1372762	0.84[EUR][1000 genomes]
rs1372763	0.84[EUR][1000 genomes]
rs168300	0.82[EUR][1000 genomes]
rs173196	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs173199	0.86[EUR][1000 genomes]
rs180830	0.82[EUR][1000 genomes]
rs180831	0.82[EUR][1000 genomes]
rs180832	0.84[EUR][1000 genomes]
rs189389	0.82[EUR][1000 genomes]
rs189390	0.84[EUR][1000 genomes]
rs2336238	0.81[EUR][1000 genomes]
rs2584798	0.82[EUR][1000 genomes]
rs28760399	0.84[EUR][1000 genomes]
rs346182	0.82[EUR][1000 genomes]
rs346185	0.82[EUR][1000 genomes]
rs346186	0.82[EUR][1000 genomes]
rs346187	0.82[EUR][1000 genomes]
rs346188	0.82[EUR][1000 genomes]
rs346189	0.82[EUR][1000 genomes]
rs346191	0.82[EUR][1000 genomes]
rs346193	0.81[EUR][1000 genomes]
rs346196	0.82[EUR][1000 genomes]
rs346212	0.82[EUR][1000 genomes]
rs346213	0.82[EUR][1000 genomes]
rs346214	0.82[EUR][1000 genomes]
rs346222	0.82[EUR][1000 genomes]
rs346223	0.82[EUR][1000 genomes]
rs346261	0.81[EUR][1000 genomes]
rs346263	0.82[EUR][1000 genomes]
rs346264	0.82[EUR][1000 genomes]
rs346265	0.82[EUR][1000 genomes]
rs346266	0.82[EUR][1000 genomes]
rs346267	0.82[EUR][1000 genomes]
rs346268	0.82[EUR][1000 genomes]
rs346269	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs346270	0.82[EUR][1000 genomes]
rs346271	0.84[EUR][1000 genomes]
rs346438	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs346439	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs346441	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs346442	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs346444	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs410555	0.81[EUR][1000 genomes]
rs417913	0.90[EUR][1000 genomes]
rs431856	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs437823	0.90[EUR][1000 genomes]
rs445364	0.82[EUR][1000 genomes]
rs675137	0.82[EUR][1000 genomes]
rs7226753	0.81[EUR][1000 genomes]
rs7239965	0.83[EUR][1000 genomes]
rs7241409	0.83[EUR][1000 genomes]
rs72903133	0.86[EUR][1000 genomes]
rs72903135	0.86[EUR][1000 genomes]
rs971293	0.82[EUR][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	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
4	nsv828218	chr18:39943102-39947378	Enhancers ZNF genes & repeats Weak transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39941200-39946200	Enhancers	Fetal Brain Male	brain
2	chr18:39944800-39946200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr18:39945400-39946200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:39945600-39953600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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