Variant report

Variant	rs2576051
Chromosome Location	chr18:44557884-44557885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10853544	0.83[EUR][1000 genomes]
rs10853545	0.84[EUR][1000 genomes]
rs10853547	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11082562	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11660085	0.83[ASN][1000 genomes]
rs12386118	0.85[ASN][1000 genomes]
rs12955429	0.81[AMR][1000 genomes]
rs1465722	0.91[ASN][1000 genomes]
rs1539878	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1789152	0.83[EUR][1000 genomes]
rs1893427	0.83[EUR][1000 genomes]
rs1970668	0.83[ASN][1000 genomes]
rs2010834	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2032215	0.83[EUR][1000 genomes]
rs2060417	0.81[AMR][1000 genomes]
rs2156050	0.83[EUR][1000 genomes]
rs2187090	0.82[EUR][1000 genomes]
rs2187091	0.81[ASN][1000 genomes]
rs2187092	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2571024	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571026	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571028	0.94[ASN][1000 genomes]
rs2571034	0.81[AMR][1000 genomes]
rs2576050	0.96[ASN][1000 genomes]
rs3744863	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3892820	0.84[EUR][1000 genomes]
rs4258717	0.83[EUR][1000 genomes]
rs4890341	0.81[EUR][1000 genomes]
rs4890342	0.85[EUR][1000 genomes]
rs4890343	0.85[ASN][1000 genomes]
rs4890699	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4890700	0.85[ASN][1000 genomes]
rs4890703	0.88[EUR][1000 genomes]
rs4890707	0.85[EUR][1000 genomes]
rs605487	0.83[EUR][1000 genomes]
rs607780	0.83[EUR][1000 genomes]
rs626217	0.84[EUR][1000 genomes]
rs642897	0.80[EUR][1000 genomes]
rs649076	0.82[EUR][1000 genomes]
rs6507709	0.84[EUR][1000 genomes]
rs6507714	0.88[EUR][1000 genomes]
rs658756	0.83[EUR][1000 genomes]
rs695001	0.80[EUR][1000 genomes]
rs7227700	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7233515	0.81[AMR][1000 genomes]
rs7234570	0.83[EUR][1000 genomes]
rs7240239	0.80[EUR][1000 genomes]
rs7244013	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7244778	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7245049	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8094654	0.83[ASN][1000 genomes]
rs8095373	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs892586	0.94[ASN][1000 genomes]
rs9304337	0.82[EUR][1000 genomes]
rs9304338	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9304340	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9945443	0.82[EUR][1000 genomes]
rs9947131	0.83[ASN][1000 genomes]
rs9959877	0.83[ASN][1000 genomes]
rs9962523	0.83[EUR][1000 genomes]
rs9966646	0.82[ASN][1000 genomes]
rs998819	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv960276	chr18:44540582-44558292	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
5	esv3330558	chr18:44540954-44558652	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
6	esv3330771	chr18:44540954-44558652	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
7	esv3400776	chr18:44540954-44558652	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
8	esv3335518	chr18:44541054-44558652	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
9	esv3358350	chr18:44541054-44558652	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
10	esv3444563	chr18:44541054-44558652	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
11	esv14271	chr18:44541908-44557900	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
12	esv1813539	chr18:44542384-44558702	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
13	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
14	esv1830773	chr18:44542584-44558502	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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

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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