Variant report

Variant	rs1809976
Chromosome Location	chr1:57809630-57809631
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10047072	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10047177	0.84[ASN][1000 genomes]
rs10047179	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1077424	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1077425	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10889035	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889036	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10889037	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889039	0.90[ASN][1000 genomes]
rs10889041	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11207007	0.87[ASN][1000 genomes]
rs11207010	0.90[ASN][1000 genomes]
rs11207011	0.87[ASN][1000 genomes]
rs11207012	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11207013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207014	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11207015	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11207016	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11207017	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207018	0.90[ASN][1000 genomes]
rs1149630	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11588755	0.87[ASN][1000 genomes]
rs11589921	0.89[ASN][1000 genomes]
rs11590708	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11799925	0.84[ASN][1000 genomes]
rs12061812	0.82[ASN][1000 genomes]
rs12067263	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12085326	0.93[ASN][1000 genomes]
rs12087888	0.90[ASN][1000 genomes]
rs12119147	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12119210	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12126723	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12137583	0.82[ASN][1000 genomes]
rs12139429	0.84[ASN][1000 genomes]
rs12142821	0.82[ASN][1000 genomes]
rs12240237	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1240439	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1240442	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1240443	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12565446	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12565636	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12741210	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1364444	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1424462	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1424463	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1424464	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1424465	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424467	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1424468	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1424469	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1424470	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1504594	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1557222	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs166514	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17423255	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17456661	0.82[ASN][1000 genomes]
rs1834151	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1862925	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2113453	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2113454	0.84[ASN][1000 genomes]
rs2113456	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2161808	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2405696	0.81[ASN][1000 genomes]
rs2405697	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs267638	0.81[ASN][1000 genomes]
rs267646	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs267647	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs267650	0.90[ASN][1000 genomes]
rs267651	0.92[ASN][1000 genomes]
rs269038	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs269039	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35804651	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374845	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3861833	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs390203	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3909558	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs439378	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4912162	0.82[ASN][1000 genomes]
rs4912163	0.82[ASN][1000 genomes]
rs4912237	0.82[ASN][1000 genomes]
rs55863020	0.82[ASN][1000 genomes]
rs61769668	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61769670	0.84[ASN][1000 genomes]
rs6587767	0.92[ASN][1000 genomes]
rs6665166	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6668257	0.87[ASN][1000 genomes]
rs6669975	0.81[ASN][1000 genomes]
rs6677561	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6687842	0.84[ASN][1000 genomes]
rs6687934	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736109	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs736110	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs746937	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7535763	0.81[ASN][1000 genomes]
rs7543805	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7547412	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7547509	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs77510	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs77511	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882283	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs90940	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs94216	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv871530	chr1:57793948-57858319	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised 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	4 gene(s)	inside rSNPs	diseases
6	nsv871968	chr1:57803349-57858319	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57800000-57826600	Weak transcription	Left Ventricle	heart
2	chr1:57803200-57816000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:57803800-57811600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:57806800-57810400	Weak transcription	Fetal Heart	heart
5	chr1:57806800-57810800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:57807200-57812400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:57807600-57814800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:57808000-57809800	Weak transcription	Fetal Brain Female	brain
9	chr1:57808200-57822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:57808800-57816600	Weak transcription	Right Ventricle	heart
11	chr1:57809000-57811800	Enhancers	Fetal Brain Male	brain
12	chr1:57809600-57810200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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