Variant report

Variant	rs56272937
Chromosome Location	chr18:44593607-44593608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs11877650	0.83[ASN][1000 genomes]
rs55633240	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs55650860	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs55664322	0.83[ASN][1000 genomes]
rs55682632	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs55754830	0.81[EUR][1000 genomes]
rs55819334	0.83[ASN][1000 genomes]
rs55840418	1.00[AFR][1000 genomes]
rs55877804	1.00[AFR][1000 genomes];1.00[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];0.94[EUR][1000 genomes]
rs56003577	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56009869	1.00[AFR][1000 genomes]
rs56010507	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56050035	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56101223	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56109213	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56119924	0.94[EUR][1000 genomes]
rs56132373	1.00[AFR][1000 genomes]
rs56138442	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56142565	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56148866	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56163470	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56164202	0.83[ASN][1000 genomes]
rs56169983	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56297904	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56299848	1.00[AFR][1000 genomes];1.00[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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743594	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61746775	0.83[ASN][1000 genomes]
rs7240909	0.83[ASN][1000 genomes]
rs7243015	0.83[ASN][1000 genomes]
rs72903234	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903239	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903243	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903245	1.00[EUR][1000 genomes]
rs72903247	1.00[EUR][1000 genomes]
rs72903249	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903269	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903273	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903277	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903280	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903291	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903295	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905218	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72905234	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72905239	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72905257	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72905263	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72905266	1.00[AFR][1000 genomes]
rs72905286	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72905296	1.00[AFR][1000 genomes]
rs72905301	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72905420	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905424	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905425	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905429	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905435	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905443	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905444	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905446	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905450	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905454	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72905460	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905499	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72907111	0.81[EUR][1000 genomes]
rs72907120	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72907122	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72907125	0.81[EUR][1000 genomes]
rs72907137	1.00[AFR][1000 genomes]
rs72907140	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72907146	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72907148	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72907151	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72907152	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72907162	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72907165	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72907174	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72907220	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72907225	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72907230	1.00[AFR][1000 genomes];1.00[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];0.94[EUR][1000 genomes]
rs72909181	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72909200	1.00[AFR][1000 genomes];0.94[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];0.94[EUR][1000 genomes]
rs72911123	1.00[AFR][1000 genomes];0.94[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];0.94[EUR][1000 genomes]
rs72913052	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72913066	0.94[EUR][1000 genomes]
rs72913075	0.94[EUR][1000 genomes]
rs72913087	1.00[AFR][1000 genomes];0.94[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]
rs72914811	1.00[AFR][1000 genomes]
rs72914843	1.00[AFR][1000 genomes]
rs72915064	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72915071	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72917106	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72917111	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72917116	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917122	1.00[AFR][1000 genomes];0.94[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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917176	0.83[ASN][1000 genomes]
rs72917200	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917202	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72919218	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919221	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919226	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919229	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919238	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919241	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919260	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919265	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919273	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72919278	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919285	0.83[ASN][1000 genomes]
rs72919289	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919290	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919292	0.83[ASN][1000 genomes]
rs72919296	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72921303	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921305	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921319	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	nsv909610	chr18:44549455-44602249	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv909611	chr18:44560875-44614090	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1057235	chr18:44564162-44595809	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1067278	chr18:44564162-44629283	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44577400-44594000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:44579800-44630200	Weak transcription	Right Ventricle	heart
3	chr18:44580600-44595400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:44584000-44594200	Weak transcription	Ovary	ovary
5	chr18:44584800-44594000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:44585200-44600000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:44586800-44629600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr18:44587200-44630600	Weak transcription	Brain Anterior Caudate	brain
9	chr18:44587600-44629400	Weak transcription	Liver	Liver
10	chr18:44587800-44603400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr18:44588200-44621600	Weak transcription	Left Ventricle	heart
12	chr18:44591000-44595400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr18:44591800-44602800	Weak transcription	Brain Angular Gyrus	brain
14	chr18:44592600-44594800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:44592800-44594000	Weak transcription	Brain Substantia Nigra	brain

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