Variant report

Variant	rs10142385
Chromosome Location	chr14:67178472-67178473
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 249 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:229)

rs_ID	r²[population]
rs10129241	0.87[AMR][1000 genomes]
rs10129692	0.82[AMR][1000 genomes]
rs10129788	0.90[AMR][1000 genomes]
rs10130206	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10130433	0.89[AMR][1000 genomes]
rs10131307	0.84[AMR][1000 genomes]
rs10132261	0.90[AMR][1000 genomes]
rs10132406	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10132505	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10132813	0.91[AMR][1000 genomes]
rs10132878	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10132885	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10133814	0.85[AMR][1000 genomes]
rs10134780	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10134870	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10134982	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10135254	0.87[AMR][1000 genomes]
rs10135564	0.87[AMR][1000 genomes]
rs10136366	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10136967	0.90[AMR][1000 genomes]
rs10137887	0.90[AMR][1000 genomes]
rs10138999	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10142264	0.92[AMR][1000 genomes]
rs10143121	0.85[AMR][1000 genomes]
rs10143288	0.90[AMR][1000 genomes]
rs10143934	0.85[AMR][1000 genomes]
rs10144449	0.81[AMR][1000 genomes]
rs10144466	0.85[AMR][1000 genomes]
rs10144894	0.85[AMR][1000 genomes]
rs10145098	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10145903	0.87[AMR][1000 genomes]
rs10147349	0.85[AMR][1000 genomes]
rs10147871	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10148069	0.80[AMR][1000 genomes]
rs10148469	0.90[AMR][1000 genomes]
rs10150028	0.90[AMR][1000 genomes]
rs10150897	0.85[AMR][1000 genomes]
rs11158633	0.83[AMR][1000 genomes]
rs11158640	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11158644	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12100691	0.87[AMR][1000 genomes]
rs12100903	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12323495	0.82[AMR][1000 genomes]
rs12323903	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12323906	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12587170	0.90[AMR][1000 genomes]
rs12587522	0.81[AMR][1000 genomes]
rs12587681	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12588411	0.85[AMR][1000 genomes]
rs12588717	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12589861	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12589948	0.83[AMR][1000 genomes]
rs12590209	0.85[AMR][1000 genomes]
rs13379118	0.83[AMR][1000 genomes]
rs13379248	0.83[AMR][1000 genomes]
rs17247749	0.90[AMR][1000 genomes]
rs17827796	0.83[AMR][1000 genomes]
rs17836552	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17836572	0.87[AMR][1000 genomes]
rs17836585	0.87[AMR][1000 genomes]
rs1885198	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1886778	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1951353	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1951355	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1951356	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1951357	0.80[AMR][1000 genomes]
rs1952070	0.85[AMR][1000 genomes]
rs1957298	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1957299	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1958001	0.85[AMR][1000 genomes]
rs2005554	0.87[AMR][1000 genomes]
rs2045420	0.81[AMR][1000 genomes]
rs2093293	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2093294	0.91[AMR][1000 genomes]
rs2094101	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2104109	0.91[AMR][1000 genomes]
rs2104110	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2104111	0.81[AMR][1000 genomes]
rs2208527	0.82[AMR][1000 genomes]
rs28418493	0.85[AMR][1000 genomes]
rs28472291	0.87[AMR][1000 genomes]
rs28483664	0.87[AMR][1000 genomes]
rs28490950	0.83[AMR][1000 genomes]
rs28663518	0.87[AMR][1000 genomes]
rs28691257	0.90[AMR][1000 genomes]
rs28712222	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28732976	0.90[AMR][1000 genomes]
rs2873997	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28820937	0.81[AMR][1000 genomes]
rs28878297	0.81[AMR][1000 genomes]
rs28880440	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3759753	0.81[AMR][1000 genomes]
rs4294753	0.80[AMR][1000 genomes]
rs4396473	0.87[AMR][1000 genomes]
rs55901762	0.90[AMR][1000 genomes]
rs57728739	0.83[AMR][1000 genomes]
rs58146014	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58607860	0.85[AMR][1000 genomes]
rs58758660	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58955638	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59067490	0.81[AMR][1000 genomes]
rs59620098	0.90[AMR][1000 genomes]
rs60616457	0.85[AMR][1000 genomes]
rs6573684	0.85[AMR][1000 genomes]
rs6573685	0.84[AMR][1000 genomes]
rs6573688	0.85[AMR][1000 genomes]
rs6573692	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6573694	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6573695	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6573696	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6573701	0.80[AMR][1000 genomes]
rs6573702	0.90[AMR][1000 genomes]
rs6573703	0.87[AMR][1000 genomes]
rs6573706	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6573707	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6573708	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6573709	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6573711	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6573712	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6573713	0.81[AMR][1000 genomes]
rs6573714	0.81[AMR][1000 genomes]
rs6573715	0.90[AMR][1000 genomes]
rs6573716	0.90[AMR][1000 genomes]
rs6573718	0.90[AMR][1000 genomes]
rs6573719	0.90[AMR][1000 genomes]
rs66714126	0.92[AMR][1000 genomes]
rs66830445	0.85[AMR][1000 genomes]
rs67205190	0.86[AMR][1000 genomes]
rs67538915	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7140417	0.87[AMR][1000 genomes]
rs7140447	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7140649	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7141166	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7141582	0.82[AMR][1000 genomes]
rs7142755	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7142950	0.86[AMR][1000 genomes]
rs7143239	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7143555	0.85[AMR][1000 genomes]
rs7144635	0.85[AMR][1000 genomes]
rs7145547	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7145676	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7145850	0.81[AMR][1000 genomes]
rs7145981	0.85[AMR][1000 genomes]
rs7146264	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7146587	0.85[AMR][1000 genomes]
rs7146849	0.83[AMR][1000 genomes]
rs7146890	0.83[AMR][1000 genomes]
rs7147027	0.85[AMR][1000 genomes]
rs7147192	0.83[AMR][1000 genomes]
rs7147351	0.85[AMR][1000 genomes]
rs7147505	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7148134	0.83[AMR][1000 genomes]
rs7148623	0.90[AMR][1000 genomes]
rs7148844	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7149668	0.83[AMR][1000 genomes]
rs7149778	0.82[AMR][1000 genomes]
rs7149820	0.81[AMR][1000 genomes]
rs7150975	0.83[AMR][1000 genomes]
rs7151270	0.84[AMR][1000 genomes]
rs7152123	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7154017	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7154493	0.85[AMR][1000 genomes]
rs7155944	0.83[AMR][1000 genomes]
rs7156074	0.90[AMR][1000 genomes]
rs7156135	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7157740	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7157828	0.85[AMR][1000 genomes]
rs7157919	0.87[AMR][1000 genomes]
rs7158148	0.92[AMR][1000 genomes]
rs7159473	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7160665	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7161707	0.81[AMR][1000 genomes]
rs766527	0.90[AMR][1000 genomes]
rs8003643	0.90[AMR][1000 genomes]
rs8004106	0.85[AMR][1000 genomes]
rs8005383	0.81[AMR][1000 genomes]
rs8005740	0.90[AMR][1000 genomes]
rs8006995	0.92[AMR][1000 genomes]
rs8007064	0.90[AMR][1000 genomes]
rs8007601	0.87[AMR][1000 genomes]
rs8008369	0.89[AMR][1000 genomes]
rs8008596	0.85[AMR][1000 genomes]
rs8009655	0.87[AMR][1000 genomes]
rs8009732	0.87[AMR][1000 genomes]
rs8010110	0.85[AMR][1000 genomes]
rs8010267	0.90[AMR][1000 genomes]
rs8010897	0.87[AMR][1000 genomes]
rs8010920	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8010952	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8011928	0.87[AMR][1000 genomes]
rs8011962	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8012158	0.90[AMR][1000 genomes]
rs8012239	0.90[AMR][1000 genomes]
rs8012279	0.81[AMR][1000 genomes]
rs8012315	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8012606	0.87[AMR][1000 genomes]
rs8013215	0.81[AMR][1000 genomes]
rs8013315	0.81[AMR][1000 genomes]
rs8013792	0.83[AMR][1000 genomes]
rs8014041	0.90[AMR][1000 genomes]
rs8014297	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8014806	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8015268	0.87[AMR][1000 genomes]
rs8015408	0.91[AMR][1000 genomes]
rs8015842	0.85[AMR][1000 genomes]
rs8015958	0.86[AMR][1000 genomes]
rs8016152	0.87[AMR][1000 genomes]
rs8016213	0.90[AMR][1000 genomes]
rs8017245	0.87[AMR][1000 genomes]
rs8017351	0.83[AMR][1000 genomes]
rs8018195	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8018310	0.81[AMR][1000 genomes]
rs8018414	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8018426	0.85[AMR][1000 genomes]
rs8018444	0.85[AMR][1000 genomes]
rs8018488	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8020249	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8021202	0.85[AMR][1000 genomes]
rs8021356	0.81[AMR][1000 genomes]
rs8023060	0.87[AMR][1000 genomes]
rs9323478	0.90[AMR][1000 genomes]
rs9323479	0.90[AMR][1000 genomes]
rs9671279	0.83[AMR][1000 genomes]
rs9671762	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9783601	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9806007	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9944150	0.85[AMR][1000 genomes]
rs997409	0.87[AMR][1000 genomes]
rs9989182	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv916205	chr14:67078849-67351687	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1834170	chr14:67103140-67527235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1840424	chr14:67103579-67186037	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv564955	chr14:67103579-67234710	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv902032	chr14:67129438-67193023	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv902033	chr14:67129438-67201176	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv564956	chr14:67139055-67268008	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv902034	chr14:67140676-67186037	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv1841470	chr14:67140676-67335425	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv902035	chr14:67140676-67336479	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv915868	chr14:67146757-67351687	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv902036	chr14:67146763-67186037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv902037	chr14:67146763-67193023	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv902038	chr14:67146763-67298170	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv902039	chr14:67147286-67186037	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv902040	chr14:67147286-67193023	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv902041	chr14:67147816-67186037	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10142385	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs10142385	ATP6V1D	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67175600-67179400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:67176600-67184400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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