Variant report

Variant	rs4318454
Chromosome Location	chr20:25708428-25708429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:198)

rs_ID	r²[population]
rs1076690	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1122769	0.81[EUR][1000 genomes]
rs12106173	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1569617	0.88[ASN][1000 genomes]
rs16987934	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16988014	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1891771	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1936188	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1936190	0.92[EUR][1000 genomes]
rs2103661	0.82[ASN][1000 genomes]
rs2388026	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242130	0.85[ASN][1000 genomes]
rs242133	0.85[ASN][1000 genomes]
rs35516971	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3764695	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3813916	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4098823	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4098824	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4113658	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4113659	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4113661	0.84[ASN][1000 genomes]
rs4113662	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41308623	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4343537	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4368405	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574179	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4813579	0.84[ASN][1000 genomes]
rs4815445	0.84[ASN][1000 genomes]
rs4815450	0.84[ASN][1000 genomes]
rs57638633	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58169034	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58877578	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59399848	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037159	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6037161	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6037164	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6037166	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6037167	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6037168	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6037179	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6037180	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6037192	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6037193	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6037195	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6037196	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6037198	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6037199	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6037204	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6037205	0.85[ASN][1000 genomes]
rs6037206	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037208	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6037212	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6037217	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6037220	0.97[ASN][1000 genomes]
rs6037222	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037223	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60463280	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050692	0.88[EUR][1000 genomes]
rs6050707	0.91[ASN][1000 genomes]
rs6050709	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050710	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050712	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050714	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050717	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050720	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050723	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050724	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050725	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050726	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050727	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050729	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050730	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050732	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050733	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050737	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050743	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050745	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050749	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050753	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050754	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050755	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050756	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050757	0.81[ASN][1000 genomes]
rs6050758	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050763	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050765	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050767	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050768	0.97[ASN][1000 genomes]
rs6050770	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050775	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050779	0.81[ASN][1000 genomes]
rs6050787	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050788	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050789	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050793	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6050795	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050796	0.84[ASN][1000 genomes]
rs6050799	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050801	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050802	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050804	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050805	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050807	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050809	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050815	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050816	0.81[ASN][1000 genomes]
rs6050825	0.84[ASN][1000 genomes]
rs6050832	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050833	0.84[ASN][1000 genomes]
rs6050834	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050835	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6050838	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050840	0.84[ASN][1000 genomes]
rs6050841	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050846	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050847	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050848	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050851	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050853	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050854	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6076372	0.82[ASN][1000 genomes]
rs6083886	0.85[EUR][1000 genomes]
rs6083896	0.82[ASN][1000 genomes]
rs6083897	0.82[ASN][1000 genomes]
rs6083899	0.82[ASN][1000 genomes]
rs60897995	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61052177	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115224	0.82[ASN][1000 genomes]
rs6138612	0.82[ASN][1000 genomes]
rs61494938	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66813885	0.92[EUR][1000 genomes]
rs66927803	0.87[EUR][1000 genomes]
rs66940055	0.87[EUR][1000 genomes]
rs66983770	0.92[EUR][1000 genomes]
rs67680401	0.87[EUR][1000 genomes]
rs68149491	0.87[EUR][1000 genomes]
rs7261537	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7261902	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7266592	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7269064	0.89[EUR][1000 genomes]
rs7274550	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337339	0.87[EUR][1000 genomes]
rs73337343	0.87[EUR][1000 genomes]
rs73337346	0.87[EUR][1000 genomes]
rs73337349	0.87[EUR][1000 genomes]
rs73337355	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337356	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337364	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337366	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337369	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337372	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337394	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337401	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73339323	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73339335	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73339360	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73339379	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73339383	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73339387	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73341305	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73341314	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73341328	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73341361	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73341363	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341365	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341397	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73343217	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73343255	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73343275	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73343292	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345232	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345249	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73345259	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73345264	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73345278	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73345280	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73345286	0.92[EUR][1000 genomes]
rs7346687	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8115484	0.87[EUR][1000 genomes]
rs8116267	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8116474	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8117253	0.87[EUR][1000 genomes]
rs8120065	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8120594	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8120972	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8121013	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8121648	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8122516	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8122589	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8125002	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8126111	0.87[EUR][1000 genomes]
rs8126236	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs926486	0.81[ASN][1000 genomes]
rs926487	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9753575	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs981440	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs981441	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941769	0.84[EUR][1000 genomes];0.87[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	nsv912834	chr20:25615272-25756336	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1056288	chr20:25662941-25744711	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1057618	chr20:25665455-25744711	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv525033	chr20:25688001-25730968	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2758517	chr20:25701992-26319569	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
6	esv2758790	chr20:25701992-26319569	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4318454	RP4-694B14.5	cis	Stomach	GTEx
rs4318454	ZNF337	cis	Stomach	GTEx
rs4318454	ZNF337	cis	Thyroid	GTEx
rs4318454	RP4-694B14.5	cis	Adipose Subcutaneous	GTEx
rs4318454	ZNF337	cis	lung	GTEx
rs4318454	RP4-694B14.5	cis	lung	GTEx
rs4318454	RP4-694B14.5	cis	Thyroid	GTEx
rs4318454	ZNF337	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25700400-25725400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr20:25701200-25720200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:25707000-25711000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:25708000-25708600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr20:25708000-25715800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr20:25708000-25716200	Weak transcription	Thymus	Thymus
7	chr20:25708000-25717200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr20:25708000-25717600	Weak transcription	Psoas Muscle	Psoas
9	chr20:25708000-25724600	Weak transcription	Brain Substantia Nigra	brain
10	chr20:25708000-25731400	Weak transcription	Esophagus	oesophagus

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