Variant report

Variant	rs1783155
Chromosome Location	chr8:110518119-110518120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10088258	0.92[ASN][1000 genomes]
rs10088612	0.95[ASN][1000 genomes]
rs10088684	0.95[ASN][1000 genomes]
rs1009371	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10108943	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10111682	0.92[ASN][1000 genomes]
rs1013482	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1026437	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1044230	0.84[ASN][1000 genomes]
rs10505133	0.95[ASN][1000 genomes]
rs13249244	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13439318	0.95[ASN][1000 genomes]
rs13439864	0.95[ASN][1000 genomes]
rs1379361	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1379366	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1379367	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1457282	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1457283	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1457288	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1457294	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1457295	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1563578	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1563580	0.90[ASN][1000 genomes]
rs1617259	0.95[ASN][1000 genomes]
rs1617350	0.95[ASN][1000 genomes]
rs1626759	0.87[AFR][1000 genomes]
rs1630134	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1630942	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1673383	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1673384	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1673386	0.92[ASN][1000 genomes]
rs1673389	0.95[ASN][1000 genomes]
rs1673395	0.95[ASN][1000 genomes]
rs1673399	0.95[ASN][1000 genomes]
rs1673409	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1673410	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1673411	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673413	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1673415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673416	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673420	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673421	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673424	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673425	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673426	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673427	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1673428	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17377636	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17449762	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1783140	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783147	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783148	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1783153	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1783158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1783159	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1783160	0.82[EUR][1000 genomes]
rs1783161	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783162	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783166	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783167	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1783168	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783169	0.93[ASN][1000 genomes]
rs1783170	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783171	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1783172	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1783173	0.93[ASN][1000 genomes]
rs1783174	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1783175	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2022934	0.87[ASN][1000 genomes]
rs2022935	0.92[ASN][1000 genomes]
rs2154660	0.95[ASN][1000 genomes]
rs2607624	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2607625	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2607627	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607628	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607629	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607630	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607631	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607632	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2607633	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2607635	0.83[ASN][1000 genomes]
rs2607636	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2703377	0.84[ASN][1000 genomes]
rs2703384	0.82[ASN][1000 genomes]
rs2703386	0.87[ASN][1000 genomes]
rs2703387	0.84[ASN][1000 genomes]
rs2703389	0.84[ASN][1000 genomes]
rs2844231	0.87[ASN][1000 genomes]
rs2844254	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2844255	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2844256	0.91[ASN][1000 genomes]
rs2844257	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2844258	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2844259	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2844260	0.93[ASN][1000 genomes]
rs2844261	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3808380	0.85[ASN][1000 genomes]
rs4529437	0.91[ASN][1000 genomes]
rs6995356	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7006166	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7011340	0.95[ASN][1000 genomes]
rs7011803	0.92[ASN][1000 genomes]
rs720139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs730885	0.93[ASN][1000 genomes]
rs753995	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7818726	0.87[ASN][1000 genomes]
rs7821242	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs897840	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs897842	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs930877	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1783155	RP11-419L20.2	cis	Thyroid	GTEx
rs1783155	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs1783155	PKHD1L1	cis	Thyroid	GTEx
rs1783155	PKHD1L1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110514400-110520000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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