Variant report

Variant	rs346230
Chromosome Location	chr18:40052746-40052747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11082276	0.87[ASN][1000 genomes]
rs1431836	0.80[EUR][1000 genomes]
rs16976159	0.92[AFR][1000 genomes]
rs180829	0.83[EUR][1000 genomes]
rs2053517	0.87[ASN][1000 genomes]
rs2336239	0.89[ASN][1000 genomes]
rs28557291	0.89[AFR][1000 genomes]
rs346195	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346211	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346216	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs346219	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346221	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346229	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346237	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346262	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs346440	0.87[ASN][1000 genomes]
rs346445	0.83[ASN][1000 genomes]
rs346446	0.81[EUR][1000 genomes]
rs346448	0.83[ASN][1000 genomes]
rs346449	0.82[ASN][1000 genomes]
rs346450	0.80[EUR][1000 genomes]
rs346451	0.81[ASN][1000 genomes]
rs346452	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs369305	0.80[EUR][1000 genomes]
rs379604	0.80[EUR][1000 genomes]
rs394078	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303629	0.81[EUR][1000 genomes]
rs4474776	0.80[EUR][1000 genomes]
rs57032575	0.80[EUR][1000 genomes]
rs57951898	0.92[AFR][1000 genomes]
rs7235528	0.89[AFR][1000 genomes]
rs7239787	0.80[EUR][1000 genomes]
rs72642409	0.81[AFR][1000 genomes]
rs8082933	0.92[AFR][1000 genomes]
rs8086796	0.80[EUR][1000 genomes]
rs8093861	0.87[ASN][1000 genomes]
rs8096568	0.84[EUR][1000 genomes]
rs8099219	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1055622	chr18:40040474-40057755	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
5	nsv1056192	chr18:40040474-40058395	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv576736	chr18:40042007-40057525	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
7	nsv1059650	chr18:40044096-40057284	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv1062292	chr18:40044096-40057755	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv3447158	chr18:40045478-40320720	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1055614	chr18:40049038-40062317	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
11	nsv1056694	chr18:40049038-40082667	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	esv2762899	chr18:40049050-40058395	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
13	nsv576737	chr18:40050363-40057525	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
14	nsv909573	chr18:40050363-40131269	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40052000-40052800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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