Variant report

Variant	rs11994227
Chromosome Location	chr8:110188047-110188048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110187579..110189456-chr8:110191000..110193987,2	K562	blood:
2	chr8:110187579..110190023-chr8:110192487..110194344,2	K562	blood:

Extended variants
information (count: 246 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:244)

rs_ID	r²[population]
rs10081564	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10086023	0.82[ASN][1000 genomes]
rs10088496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089544	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091155	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10098145	0.82[ASN][1000 genomes]
rs10100690	0.97[ASN][1000 genomes]
rs10101048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10464819	0.92[ASN][1000 genomes]
rs10464848	0.92[ASN][1000 genomes]
rs10464849	0.92[ASN][1000 genomes]
rs10955508	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955510	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955511	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10955512	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10955513	0.98[ASN][1000 genomes]
rs10955514	0.92[ASN][1000 genomes]
rs11775991	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11785243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785269	0.83[ASN][1000 genomes]
rs11985765	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11986161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992816	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11994164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995419	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11997974	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542811	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544150	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544462	0.81[ASN][1000 genomes]
rs12544503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546169	0.90[ASN][1000 genomes]
rs12546985	0.92[ASN][1000 genomes]
rs12549347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674513	0.92[ASN][1000 genomes]
rs12674533	0.92[ASN][1000 genomes]
rs12675753	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679311	0.82[ASN][1000 genomes]
rs12679958	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12680451	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12680886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12682610	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13251321	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13251597	0.99[ASN][1000 genomes]
rs13254233	0.81[ASN][1000 genomes]
rs13265151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269597	0.82[ASN][1000 genomes]
rs13269698	0.81[ASN][1000 genomes]
rs13270022	0.86[ASN][1000 genomes]
rs13282488	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380096	0.88[ASN][1000 genomes]
rs1380097	0.88[ASN][1000 genomes]
rs1380098	0.92[ASN][1000 genomes]
rs1380099	0.97[ASN][1000 genomes]
rs1458915	0.88[ASN][1000 genomes]
rs1458916	0.88[ASN][1000 genomes]
rs1458917	0.88[ASN][1000 genomes]
rs1458921	0.92[ASN][1000 genomes]
rs1458922	0.90[ASN][1000 genomes]
rs1458924	0.92[ASN][1000 genomes]
rs1458925	0.92[ASN][1000 genomes]
rs1458926	0.92[ASN][1000 genomes]
rs1458927	0.91[ASN][1000 genomes]
rs1548082	0.92[ASN][1000 genomes]
rs1548083	0.92[ASN][1000 genomes]
rs1585295	0.98[ASN][1000 genomes]
rs1585296	0.90[ASN][1000 genomes]
rs1585297	0.89[ASN][1000 genomes]
rs16892486	0.81[ASN][1000 genomes]
rs16892496	0.81[ASN][1000 genomes]
rs17364037	0.92[ASN][1000 genomes]
rs1947630	0.92[ASN][1000 genomes]
rs1947631	0.92[ASN][1000 genomes]
rs2007179	0.97[ASN][1000 genomes]
rs2054255	0.92[ASN][1000 genomes]
rs2067780	0.92[ASN][1000 genomes]
rs2125512	0.96[ASN][1000 genomes]
rs2168965	0.96[ASN][1000 genomes]
rs2199122	0.90[ASN][1000 genomes]
rs28407429	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28413119	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882176	0.92[ASN][1000 genomes]
rs28870477	0.92[ASN][1000 genomes]
rs2926191	0.91[ASN][1000 genomes]
rs2926192	0.91[ASN][1000 genomes]
rs2926198	0.92[ASN][1000 genomes]
rs2926199	0.92[ASN][1000 genomes]
rs2926202	0.92[ASN][1000 genomes]
rs2926203	0.92[ASN][1000 genomes]
rs2926204	0.92[ASN][1000 genomes]
rs2926207	0.82[ASN][1000 genomes]
rs2926209	0.92[ASN][1000 genomes]
rs2926213	0.92[ASN][1000 genomes]
rs2926216	0.92[ASN][1000 genomes]
rs2926217	0.92[ASN][1000 genomes]
rs2926218	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2926220	0.92[ASN][1000 genomes]
rs2926222	0.88[ASN][1000 genomes]
rs2926223	0.92[ASN][1000 genomes]
rs2926245	0.85[ASN][1000 genomes]
rs2926246	0.85[ASN][1000 genomes]
rs2926247	0.85[ASN][1000 genomes]
rs2926249	0.85[ASN][1000 genomes]
rs2926250	0.85[ASN][1000 genomes]
rs2926251	0.81[ASN][1000 genomes]
rs2926254	0.87[ASN][1000 genomes]
rs2926255	0.87[ASN][1000 genomes]
rs2926256	0.87[ASN][1000 genomes]
rs2926257	0.88[ASN][1000 genomes]
rs2926258	0.88[ASN][1000 genomes]
rs2926260	0.82[ASN][1000 genomes]
rs2926261	0.88[ASN][1000 genomes]
rs2926264	0.88[ASN][1000 genomes]
rs2926268	0.90[ASN][1000 genomes]
rs2926270	0.90[ASN][1000 genomes]
rs2926271	0.90[ASN][1000 genomes]
rs2926273	0.90[ASN][1000 genomes]
rs2926275	0.90[ASN][1000 genomes]
rs2926276	0.90[ASN][1000 genomes]
rs2926283	0.91[ASN][1000 genomes]
rs2980565	0.85[ASN][1000 genomes]
rs2980587	0.92[ASN][1000 genomes]
rs2980588	0.92[ASN][1000 genomes]
rs2980590	0.92[ASN][1000 genomes]
rs2980592	0.92[ASN][1000 genomes]
rs2980595	0.92[ASN][1000 genomes]
rs2980596	0.92[ASN][1000 genomes]
rs2980597	0.82[ASN][1000 genomes]
rs2980598	0.92[ASN][1000 genomes]
rs2980599	0.92[ASN][1000 genomes]
rs2980601	0.92[ASN][1000 genomes]
rs2980603	0.92[ASN][1000 genomes]
rs2980604	0.92[ASN][1000 genomes]
rs2980605	0.91[ASN][1000 genomes]
rs2980608	0.91[ASN][1000 genomes]
rs2980609	0.92[ASN][1000 genomes]
rs2980610	0.87[ASN][1000 genomes]
rs2980612	0.90[ASN][1000 genomes]
rs2980613	0.90[ASN][1000 genomes]
rs2980615	0.90[ASN][1000 genomes]
rs2980616	0.90[ASN][1000 genomes]
rs2980617	0.90[ASN][1000 genomes]
rs2980618	0.90[ASN][1000 genomes]
rs2980622	0.90[ASN][1000 genomes]
rs2980624	0.88[ASN][1000 genomes]
rs2980629	0.88[ASN][1000 genomes]
rs2980633	0.88[ASN][1000 genomes]
rs2980634	0.86[ASN][1000 genomes]
rs2980635	0.92[ASN][1000 genomes]
rs2980638	0.85[ASN][1000 genomes]
rs3134471	0.81[ASN][1000 genomes]
rs34049275	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34092076	0.81[ASN][1000 genomes]
rs34979579	0.87[ASN][1000 genomes]
rs35850605	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35978837	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890699	0.98[ASN][1000 genomes]
rs3925087	0.81[ASN][1000 genomes]
rs4130640	0.98[ASN][1000 genomes]
rs4130682	0.81[ASN][1000 genomes]
rs4236801	0.83[ASN][1000 genomes]
rs4236803	0.99[ASN][1000 genomes]
rs4236804	0.98[ASN][1000 genomes]
rs4257986	0.98[ASN][1000 genomes]
rs4265160	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4273834	0.92[ASN][1000 genomes]
rs4288351	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4291240	0.94[ASN][1000 genomes]
rs4311632	0.98[ASN][1000 genomes]
rs4332104	0.98[ASN][1000 genomes]
rs4339614	0.98[ASN][1000 genomes]
rs4358779	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4389899	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4389900	0.98[ASN][1000 genomes]
rs4428648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4442117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4446710	0.83[ASN][1000 genomes]
rs4454252	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4464939	0.81[ASN][1000 genomes]
rs4529440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4546626	0.83[ASN][1000 genomes]
rs4570131	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4604407	0.94[ASN][1000 genomes]
rs4645539	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734190	0.83[ASN][1000 genomes]
rs4734192	0.82[ASN][1000 genomes]
rs4734196	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734203	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4734204	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4734205	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4734209	0.87[ASN][1000 genomes]
rs4734210	0.92[ASN][1000 genomes]
rs4735095	0.82[ASN][1000 genomes]
rs4735096	0.82[ASN][1000 genomes]
rs4735097	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4735098	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4735108	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735109	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735114	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4735116	0.97[ASN][1000 genomes]
rs4735118	0.96[ASN][1000 genomes]
rs4735121	0.92[ASN][1000 genomes]
rs4735122	0.92[ASN][1000 genomes]
rs55765942	0.92[ASN][1000 genomes]
rs56896876	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5778	0.83[ASN][1000 genomes]
rs62511091	0.99[ASN][1000 genomes]
rs6469245	0.97[ASN][1000 genomes]
rs6983369	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6983376	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6985869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988041	0.93[ASN][1000 genomes]
rs6990140	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994788	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6998731	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6998883	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7004206	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7008174	0.93[ASN][1000 genomes]
rs7010380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71526729	0.81[ASN][1000 genomes]
rs720574	0.88[ASN][1000 genomes]
rs7817746	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7817909	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7823804	0.83[ASN][1000 genomes]
rs7825689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828207	0.83[ASN][1000 genomes]
rs7829544	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7832552	0.81[ASN][1000 genomes]
rs7844643	0.83[ASN][1000 genomes]
rs7845815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922044	0.97[ASN][1000 genomes]
rs9297421	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023204	chr8:110169573-110303085	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1031663	chr8:110177432-110303085	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11994227	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110186000-110192200	Weak transcription	HSMMtube	muscle
2	chr8:110187400-110188200	Weak transcription	Lung	lung

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