Variant report

Variant	rs56388142
Chromosome Location	chr18:44583880-44583881
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11872317	1.00[ASN][1000 genomes]
rs11872350	0.82[EUR][1000 genomes]
rs11872376	1.00[ASN][1000 genomes]
rs11872476	1.00[ASN][1000 genomes]
rs11873174	0.82[EUR][1000 genomes]
rs11873793	1.00[ASN][1000 genomes]
rs11874218	1.00[ASN][1000 genomes]
rs11874300	1.00[ASN][1000 genomes]
rs11874348	0.82[EUR][1000 genomes]
rs11875032	1.00[ASN][1000 genomes]
rs11875527	1.00[ASN][1000 genomes]
rs11875918	1.00[ASN][1000 genomes]
rs11876118	0.82[EUR][1000 genomes]
rs11876752	1.00[ASN][1000 genomes]
rs11877429	1.00[ASN][1000 genomes]
rs11877540	1.00[ASN][1000 genomes]
rs11878050	0.82[EUR][1000 genomes]
rs11878114	1.00[ASN][1000 genomes]
rs11878135	1.00[ASN][1000 genomes]
rs55717985	0.82[EUR][1000 genomes]
rs55752024	1.00[ASN][1000 genomes]
rs55890037	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030315	1.00[ASN][1000 genomes]
rs56055727	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56146866	1.00[ASN][1000 genomes]
rs56202233	1.00[ASN][1000 genomes]
rs56333835	1.00[ASN][1000 genomes]
rs56400973	1.00[ASN][1000 genomes]
rs7229231	1.00[ASN][1000 genomes]
rs72903209	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903212	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903231	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903232	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903252	0.82[EUR][1000 genomes]
rs72903283	0.82[EUR][1000 genomes]
rs72903284	0.82[EUR][1000 genomes]
rs72903301	0.82[EUR][1000 genomes]
rs72903390	1.00[ASN][1000 genomes]
rs72903401	1.00[ASN][1000 genomes]
rs72905209	1.00[ASN][1000 genomes]
rs72905249	1.00[ASN][1000 genomes]
rs72905251	1.00[ASN][1000 genomes]
rs72905265	1.00[ASN][1000 genomes]
rs72905274	1.00[ASN][1000 genomes]
rs72905289	1.00[ASN][1000 genomes]
rs72905292	1.00[ASN][1000 genomes]
rs72905404	0.82[EUR][1000 genomes]
rs72905405	0.82[EUR][1000 genomes]
rs72905406	0.82[EUR][1000 genomes]
rs72905408	0.82[EUR][1000 genomes]
rs72905410	0.82[EUR][1000 genomes]
rs72905430	0.82[EUR][1000 genomes]
rs72905433	0.82[EUR][1000 genomes]
rs72905469	0.82[EUR][1000 genomes]
rs72905471	0.82[EUR][1000 genomes]
rs72905478	0.82[EUR][1000 genomes]
rs72905489	0.82[EUR][1000 genomes]
rs72905490	0.82[EUR][1000 genomes]
rs72905500	0.82[EUR][1000 genomes]
rs72907114	1.00[ASN][1000 genomes]
rs72907118	1.00[ASN][1000 genomes]
rs72907130	1.00[ASN][1000 genomes]
rs72907134	1.00[ASN][1000 genomes]
rs72907154	1.00[ASN][1000 genomes]
rs72907155	1.00[ASN][1000 genomes]
rs72907196	1.00[ASN][1000 genomes]
rs72907205	0.82[EUR][1000 genomes]
rs72907208	0.82[EUR][1000 genomes]
rs72907211	0.82[EUR][1000 genomes]
rs72907215	0.82[EUR][1000 genomes]
rs72909171	1.00[ASN][1000 genomes]
rs72909189	1.00[ASN][1000 genomes]
rs72909195	1.00[ASN][1000 genomes]
rs72909201	1.00[ASN][1000 genomes]
rs72911111	1.00[ASN][1000 genomes]
rs72911118	1.00[ASN][1000 genomes]
rs72913063	1.00[ASN][1000 genomes]
rs72915084	1.00[ASN][1000 genomes]
rs72917125	1.00[ASN][1000 genomes]
rs72917151	1.00[ASN][1000 genomes]
rs72919213	1.00[ASN][1000 genomes]
rs72919256	0.83[AMR][1000 genomes]
rs72919298	1.00[ASN][1000 genomes]
rs72921352	1.00[ASN][1000 genomes]
rs72921363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921366	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	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	nsv2282	chr18:44547638-44590333	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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:3 , 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

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