Variant report

Variant	rs72919241
Chromosome Location	chr18:44533377-44533378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs11877650	0.83[ASN][1000 genomes]
rs55633240	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55650860	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55664322	0.83[ASN][1000 genomes]
rs55682632	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs55754830	0.87[EUR][1000 genomes]
rs55819334	0.83[ASN][1000 genomes]
rs55840418	1.00[AFR][1000 genomes]
rs55877804	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916944	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55929919	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56003577	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56009869	1.00[AFR][1000 genomes]
rs56010507	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56050035	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56101223	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56109213	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56119924	1.00[EUR][1000 genomes]
rs56132373	1.00[AFR][1000 genomes]
rs56138442	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56142565	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56148866	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56163470	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56164202	0.83[ASN][1000 genomes]
rs56169983	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56236054	1.00[AFR][1000 genomes]
rs56272937	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56297904	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56299848	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56303451	0.83[ASN][1000 genomes]
rs61738602	0.83[ASN][1000 genomes]
rs61743415	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743594	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61746775	0.83[ASN][1000 genomes]
rs7240909	0.83[ASN][1000 genomes]
rs7243015	0.83[ASN][1000 genomes]
rs72903234	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903239	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903243	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72903245	0.94[EUR][1000 genomes]
rs72903247	0.94[EUR][1000 genomes]
rs72903249	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72903269	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72903273	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72903277	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72903280	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72903291	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72903295	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72903352	1.00[AFR][1000 genomes]
rs72903388	1.00[AFR][1000 genomes]
rs72903391	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72905218	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72905234	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72905239	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72905257	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72905263	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72905266	1.00[AFR][1000 genomes]
rs72905286	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72905296	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72905301	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72905420	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905424	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905425	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905429	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905435	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905443	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905444	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905446	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905450	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905454	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72905460	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905499	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72907111	0.87[EUR][1000 genomes]
rs72907120	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907122	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907125	0.87[EUR][1000 genomes]
rs72907137	1.00[AFR][1000 genomes]
rs72907140	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907146	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907148	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907151	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907152	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907162	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907165	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907174	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907220	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72907225	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72907230	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72907240	1.00[AFR][1000 genomes]
rs72907243	1.00[AFR][1000 genomes]
rs72907247	1.00[AFR][1000 genomes]
rs72907254	1.00[AFR][1000 genomes]
rs72907261	1.00[AFR][1000 genomes]
rs72907269	1.00[AFR][1000 genomes]
rs72907290	1.00[AFR][1000 genomes]
rs72907298	1.00[AFR][1000 genomes]
rs72909104	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72909181	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72909200	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72909204	1.00[AFR][1000 genomes]
rs72909212	1.00[AFR][1000 genomes]
rs72909229	1.00[AFR][1000 genomes]
rs72909252	1.00[AFR][1000 genomes]
rs72909254	1.00[AFR][1000 genomes]
rs72909289	1.00[AFR][1000 genomes]
rs72911116	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911123	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911203	1.00[AFR][1000 genomes]
rs72911205	1.00[AFR][1000 genomes]
rs72911207	1.00[AFR][1000 genomes]
rs72913049	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913052	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913066	1.00[EUR][1000 genomes]
rs72913075	1.00[EUR][1000 genomes]
rs72913087	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913164	1.00[AFR][1000 genomes]
rs72913166	1.00[AFR][1000 genomes]
rs72913186	1.00[AFR][1000 genomes]
rs72913187	1.00[AFR][1000 genomes]
rs72915064	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915071	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72917106	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72917111	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72917116	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917122	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917159	0.83[ASN][1000 genomes]
rs72917161	0.83[ASN][1000 genomes]
rs72917165	0.83[ASN][1000 genomes]
rs72917167	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917176	0.83[ASN][1000 genomes]
rs72917200	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917202	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919218	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919221	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919226	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919229	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919238	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919260	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919265	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919273	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919278	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919285	0.83[ASN][1000 genomes]
rs72919289	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919290	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919292	0.83[ASN][1000 genomes]
rs72919296	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72921303	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921305	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921319	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1057629	chr18:44500259-44539223	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1062444	chr18:44503472-44539223	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1062682	chr18:44509052-44539223	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1056744	chr18:44509052-44581752	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv1818108	chr18:44519357-44549177	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1825684	chr18:44526351-44549177	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44527400-44538800	Weak transcription	Brain Hippocampus Middle	brain
2	chr18:44533000-44533400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr18:44533200-44533400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr18:44533200-44533800	Enhancers	Muscle Satellite Cultured Cells	--

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