Variant report

Variant	rs2989971
Chromosome Location	chr1:195750647-195750648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 230 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:227)

rs_ID	r²[population]
rs10436908	0.84[EUR][1000 genomes]
rs10737655	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10737656	0.83[EUR][1000 genomes]
rs10737657	0.83[EUR][1000 genomes]
rs10737663	0.82[EUR][1000 genomes]
rs10737664	0.82[EUR][1000 genomes]
rs10737665	0.82[EUR][1000 genomes]
rs10754149	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10754150	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10754151	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10754152	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10754153	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10754154	0.90[EUR][1000 genomes]
rs10754155	0.82[EUR][1000 genomes]
rs10754156	0.83[EUR][1000 genomes]
rs10754158	0.83[EUR][1000 genomes]
rs10754159	0.83[EUR][1000 genomes]
rs10754160	0.83[EUR][1000 genomes]
rs10754161	0.83[EUR][1000 genomes]
rs10754163	0.82[EUR][1000 genomes]
rs10754164	0.83[EUR][1000 genomes]
rs10754165	0.83[EUR][1000 genomes]
rs10754166	0.83[EUR][1000 genomes]
rs10754167	0.82[EUR][1000 genomes]
rs10801449	0.86[ASN][1000 genomes]
rs10801450	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801451	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801452	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801453	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801454	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801455	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801456	0.91[EUR][1000 genomes]
rs10801457	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10801458	0.82[EUR][1000 genomes]
rs10801461	0.83[EUR][1000 genomes]
rs10801464	0.81[EUR][1000 genomes]
rs10801465	0.83[EUR][1000 genomes]
rs10801466	0.83[EUR][1000 genomes]
rs10801467	0.83[EUR][1000 genomes]
rs10801468	0.84[EUR][1000 genomes]
rs10801469	0.83[EUR][1000 genomes]
rs10801471	0.83[EUR][1000 genomes]
rs10801472	0.82[EUR][1000 genomes]
rs10801473	0.83[EUR][1000 genomes]
rs10801474	0.83[EUR][1000 genomes]
rs10801475	0.83[EUR][1000 genomes]
rs10801476	0.83[EUR][1000 genomes]
rs10921902	0.84[ASN][1000 genomes]
rs10921921	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10921922	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10921923	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10921929	0.86[EUR][1000 genomes]
rs10921930	0.86[EUR][1000 genomes]
rs10921933	0.83[EUR][1000 genomes]
rs10921934	0.83[EUR][1000 genomes]
rs10921935	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10921936	0.83[EUR][1000 genomes]
rs10921937	0.83[EUR][1000 genomes]
rs10921938	0.82[EUR][1000 genomes]
rs10921939	0.83[EUR][1000 genomes]
rs10921940	0.83[EUR][1000 genomes]
rs10921941	0.83[EUR][1000 genomes]
rs10921942	0.83[EUR][1000 genomes]
rs10921949	0.83[EUR][1000 genomes]
rs10921950	0.83[EUR][1000 genomes]
rs10921951	0.82[EUR][1000 genomes]
rs10921952	0.82[EUR][1000 genomes]
rs10921958	0.82[EUR][1000 genomes]
rs10921959	0.81[EUR][1000 genomes]
rs10921960	0.81[EUR][1000 genomes]
rs10921961	0.81[EUR][1000 genomes]
rs11581892	0.84[EUR][1000 genomes]
rs11585686	0.82[EUR][1000 genomes]
rs12021959	0.80[EUR][1000 genomes]
rs12031297	0.84[EUR][1000 genomes]
rs12033878	0.83[EUR][1000 genomes]
rs12033909	0.83[EUR][1000 genomes]
rs12034298	0.83[EUR][1000 genomes]
rs12034411	0.84[EUR][1000 genomes]
rs12034444	0.84[EUR][1000 genomes]
rs12039564	0.82[EUR][1000 genomes]
rs12040356	0.80[EUR][1000 genomes]
rs12042722	0.80[EUR][1000 genomes]
rs12067826	0.93[EUR][1000 genomes]
rs12081890	0.82[EUR][1000 genomes]
rs12084932	0.82[EUR][1000 genomes]
rs12089361	0.80[EUR][1000 genomes]
rs12562966	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12563650	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12565826	0.83[EUR][1000 genomes]
rs1548294	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1548295	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2895785	0.86[ASN][1000 genomes]
rs2942912	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2942913	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2942914	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2942915	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2942916	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2942917	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2942924	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942926	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2942927	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2989981	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2989982	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2989984	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2989985	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2989987	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3010156	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3010164	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3010165	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3010166	0.82[ASN][1000 genomes]
rs3010167	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3010168	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3010169	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3010170	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3010171	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3010173	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3010174	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3010176	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3010177	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3010178	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34167524	0.81[EUR][1000 genomes]
rs34435407	0.81[EUR][1000 genomes]
rs35172199	0.81[EUR][1000 genomes]
rs35278954	0.81[EUR][1000 genomes]
rs4130440	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4256793	0.83[EUR][1000 genomes]
rs4256794	0.81[EUR][1000 genomes]
rs4266862	0.83[EUR][1000 genomes]
rs4269755	0.83[EUR][1000 genomes]
rs4272603	0.82[EUR][1000 genomes]
rs4276894	0.82[EUR][1000 genomes]
rs4294395	0.83[EUR][1000 genomes]
rs4313376	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4330904	0.81[EUR][1000 genomes]
rs4335360	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4345788	0.81[EUR][1000 genomes]
rs4350188	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4351619	0.83[EUR][1000 genomes]
rs4353070	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4367774	0.82[EUR][1000 genomes]
rs4390158	0.83[EUR][1000 genomes]
rs4390159	0.82[EUR][1000 genomes]
rs4390160	0.82[EUR][1000 genomes]
rs4393138	0.91[EUR][1000 genomes]
rs4394633	0.83[EUR][1000 genomes]
rs4402108	0.80[EUR][1000 genomes]
rs4408131	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4415544	0.80[EUR][1000 genomes]
rs4424491	0.83[EUR][1000 genomes]
rs4436370	0.83[EUR][1000 genomes]
rs4436371	0.83[EUR][1000 genomes]
rs4436372	0.82[EUR][1000 genomes]
rs4440838	0.82[EUR][1000 genomes]
rs4443868	0.83[EUR][1000 genomes]
rs4460616	0.82[EUR][1000 genomes]
rs4462122	0.82[EUR][1000 genomes]
rs4465184	0.82[EUR][1000 genomes]
rs4466638	0.82[EUR][1000 genomes]
rs4469700	0.82[EUR][1000 genomes]
rs4475728	0.81[EUR][1000 genomes]
rs4484908	0.82[EUR][1000 genomes]
rs4488010	0.83[EUR][1000 genomes]
rs4489536	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4495679	0.82[EUR][1000 genomes]
rs4501823	0.81[EUR][1000 genomes]
rs4504871	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4504873	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4512627	0.90[EUR][1000 genomes]
rs4518882	0.83[EUR][1000 genomes]
rs4520401	0.82[EUR][1000 genomes]
rs4521977	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4523504	0.81[EUR][1000 genomes]
rs4525025	0.83[EUR][1000 genomes]
rs4532815	0.82[EUR][1000 genomes]
rs4537534	0.82[EUR][1000 genomes]
rs4539117	0.83[EUR][1000 genomes]
rs4548419	0.81[EUR][1000 genomes]
rs4604678	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4607868	0.83[EUR][1000 genomes]
rs4612608	0.82[EUR][1000 genomes]
rs4631670	0.82[EUR][1000 genomes]
rs4634886	0.82[EUR][1000 genomes]
rs4657813	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56024053	0.86[ASN][1000 genomes]
rs61820610	0.81[EUR][1000 genomes]
rs61820611	0.81[EUR][1000 genomes]
rs6428301	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6428302	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6428303	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6428304	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6428305	0.82[EUR][1000 genomes]
rs6428306	0.82[EUR][1000 genomes]
rs6428307	0.82[EUR][1000 genomes]
rs6428308	0.81[EUR][1000 genomes]
rs6428309	0.81[EUR][1000 genomes]
rs6655952	0.82[EUR][1000 genomes]
rs6658511	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6676210	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6679783	0.81[EUR][1000 genomes]
rs6681536	0.83[EUR][1000 genomes]
rs6682388	0.83[EUR][1000 genomes]
rs6683699	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6686736	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6691116	0.83[EUR][1000 genomes]
rs6691119	0.83[EUR][1000 genomes]
rs6699302	0.83[EUR][1000 genomes]
rs6702353	0.83[EUR][1000 genomes]
rs72734155	0.86[ASN][1000 genomes]
rs72734156	0.86[ASN][1000 genomes]
rs72734157	0.86[ASN][1000 genomes]
rs72734159	0.86[ASN][1000 genomes]
rs7411386	0.81[EUR][1000 genomes]
rs7520731	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7522363	0.82[EUR][1000 genomes]
rs7522510	0.82[EUR][1000 genomes]
rs7523221	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7530086	0.81[EUR][1000 genomes]
rs7541902	0.81[EUR][1000 genomes]
rs7542096	0.82[EUR][1000 genomes]
rs7542104	0.82[EUR][1000 genomes]
rs7553148	0.82[EUR][1000 genomes]
rs7553244	0.81[EUR][1000 genomes]
rs7554138	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9427617	0.88[EUR][1000 genomes]
rs990924	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs990927	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872937	chr1:195493538-195849028	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1007203	chr1:195672857-195902360	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv947364	chr1:195746611-195752928	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2989971	C16orf5	trans	cerebellum	SCAN
rs2989971	GLRX2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195750600-195751000	Enhancers	Fetal Brain Female	brain

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