Variant report

Variant	rs72919298
Chromosome Location	chr18:44559307-44559308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr18:44559291-44559555	K562	blood:	n/a	chr18:44559446-44559459

Variant related genes	Relation type
TCEB3C	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11872317	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872376	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872476	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873793	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874218	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874300	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875032	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875527	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875655	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11875918	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876752	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877429	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877540	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11878114	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878135	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893054	1.00[ASN][1000 genomes]
rs55752024	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890037	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56030315	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055727	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56146866	1.00[ASN][1000 genomes]
rs56202233	1.00[ASN][1000 genomes]
rs56333835	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388142	1.00[ASN][1000 genomes]
rs56400973	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7229231	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903209	1.00[ASN][1000 genomes]
rs72903212	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72903231	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72903232	1.00[ASN][1000 genomes]
rs72903376	1.00[ASN][1000 genomes]
rs72903390	1.00[ASN][1000 genomes]
rs72903401	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905209	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905249	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905251	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905265	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905274	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905289	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905292	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907114	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907118	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907130	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907134	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907154	1.00[ASN][1000 genomes]
rs72907155	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907196	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909171	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909189	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909195	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909201	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911111	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911118	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913063	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72915084	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917125	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917151	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919213	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919256	0.83[AMR][1000 genomes]
rs72921352	1.00[ASN][1000 genomes]
rs72921363	1.00[ASN][1000 genomes]
rs72921366	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	esv1805582	chr18:44542384-44577288	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv514871	chr18:44546006-44562254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv917076	chr18:44558149-44568902	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv828225	chr18:44559049-44560164	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv998188	chr18:44559112-44560266	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44553200-44562600	Weak transcription	Right Ventricle	heart
2	chr18:44555400-44560000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:44555400-44560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:44555400-44561400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:44555400-44563200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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