Variant report

Variant	rs55693830
Chromosome Location	chr18:44361318-44361319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs11872472	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874267	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11874423	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11874582	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11874634	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11875703	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11876274	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11877331	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11877373	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11877650	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11877668	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877721	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11877929	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17472	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1962181	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35539161	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4084161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640275	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55664322	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55710513	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55756567	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55779584	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55781503	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55819334	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55938990	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56064494	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56095591	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56123148	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56164202	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56188847	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56217029	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56250012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56279708	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56298133	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56303451	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56352844	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56414010	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61738602	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61746775	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6507707	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7230266	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7233110	0.84[ASN][1000 genomes]
rs7234512	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7236403	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7238877	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7240457	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7240843	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7240909	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7241858	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7241877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242313	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7242451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243015	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7243309	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72905224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905276	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72907105	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72907112	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72907128	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72907132	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72907142	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907143	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907164	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907177	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907199	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72909109	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72909190	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72909191	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72911104	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72911106	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72913060	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72913070	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72913076	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72913080	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72913091	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72913096	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72913098	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72915060	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72915074	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72915093	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72915096	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72917159	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72917161	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72917165	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72917176	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72919280	0.83[AMR][1000 genomes]
rs72919285	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72919292	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7506367	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8088346	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8089367	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8092148	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8094449	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8099378	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	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
3	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909597	chr18:44291419-44385150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv909599	chr18:44294722-44385150	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv909600	chr18:44294722-44396246	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv909601	chr18:44294722-44400621	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv909602	chr18:44294722-44422661	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv909604	chr18:44300281-44370518	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv909605	chr18:44316719-44422661	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv909606	chr18:44318548-44422661	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv909607	chr18:44320836-44422661	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	nsv909608	chr18:44335724-44422661	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv1056282	chr18:44351115-44388233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44349600-44381600	Weak transcription	Psoas Muscle	Psoas
2	chr18:44357800-44365400	Weak transcription	Left Ventricle	heart

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