Variant report

Variant	rs2844256
Chromosome Location	chr8:110505425-110505426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:110505316-110505516	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110502694..110504947-chr8:110505259..110508186,2	K562	blood:
2	chr8:110500097..110503001-chr8:110504877..110506686,2	MCF-7	breast:
3	chr8:110504163..110506389-chr8:110506692..110509341,2	MCF-7	breast:

Variant related genes	Relation type
PKHD1L1	TF binding region

Extended variants
information (count: 113 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10088258	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10088612	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10088684	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1009371	0.93[ASN][1000 genomes]
rs10108943	0.92[ASN][1000 genomes]
rs10111682	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1013482	0.96[ASN][1000 genomes]
rs1026437	0.93[ASN][1000 genomes]
rs1044230	0.81[ASN][1000 genomes]
rs10505133	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13249244	0.92[ASN][1000 genomes]
rs13439318	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13439864	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1379361	0.93[ASN][1000 genomes]
rs1379366	0.93[ASN][1000 genomes]
rs1379367	0.90[ASN][1000 genomes]
rs1457282	0.92[ASN][1000 genomes]
rs1457283	0.92[ASN][1000 genomes]
rs1457288	0.93[ASN][1000 genomes]
rs1457294	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1457295	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1563578	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1563580	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1617259	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1617350	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1630134	0.92[ASN][1000 genomes]
rs1630942	0.93[ASN][1000 genomes]
rs1673383	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673384	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673386	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1673389	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673395	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673399	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673409	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673410	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673411	0.93[ASN][1000 genomes]
rs1673413	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673415	0.93[ASN][1000 genomes]
rs1673416	0.92[ASN][1000 genomes]
rs1673419	0.93[ASN][1000 genomes]
rs1673420	0.93[ASN][1000 genomes]
rs1673421	0.95[ASN][1000 genomes]
rs1673424	0.96[ASN][1000 genomes]
rs1673425	0.96[ASN][1000 genomes]
rs1673426	0.96[ASN][1000 genomes]
rs1673427	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673428	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17377636	0.92[ASN][1000 genomes]
rs17449762	0.92[ASN][1000 genomes]
rs1783140	0.93[ASN][1000 genomes]
rs1783147	0.93[ASN][1000 genomes]
rs1783148	0.92[ASN][1000 genomes]
rs1783153	0.93[ASN][1000 genomes]
rs1783154	0.93[ASN][1000 genomes]
rs1783155	0.91[ASN][1000 genomes]
rs1783157	0.92[ASN][1000 genomes]
rs1783158	0.95[ASN][1000 genomes]
rs1783159	0.95[ASN][1000 genomes]
rs1783161	0.96[ASN][1000 genomes]
rs1783162	0.96[ASN][1000 genomes]
rs1783166	0.93[ASN][1000 genomes]
rs1783167	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783168	0.93[ASN][1000 genomes]
rs1783169	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783170	0.93[ASN][1000 genomes]
rs1783171	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783172	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783173	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783174	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783175	0.92[ASN][1000 genomes]
rs2022934	0.83[ASN][1000 genomes]
rs2022935	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2154660	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2607624	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607625	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607627	0.96[ASN][1000 genomes]
rs2607628	0.96[ASN][1000 genomes]
rs2607629	0.96[ASN][1000 genomes]
rs2607630	0.96[ASN][1000 genomes]
rs2607631	0.96[ASN][1000 genomes]
rs2607632	0.93[ASN][1000 genomes]
rs2607633	0.92[ASN][1000 genomes]
rs2607635	0.87[ASN][1000 genomes]
rs2607636	0.93[ASN][1000 genomes]
rs2703377	0.81[ASN][1000 genomes]
rs2703384	0.80[ASN][1000 genomes]
rs2703386	0.83[ASN][1000 genomes]
rs2703387	0.81[ASN][1000 genomes]
rs2703389	0.81[ASN][1000 genomes]
rs2844231	0.83[ASN][1000 genomes]
rs2844254	0.93[ASN][1000 genomes]
rs2844255	0.93[ASN][1000 genomes]
rs2844257	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844258	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844259	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844260	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2844261	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808380	0.82[ASN][1000 genomes]
rs4529437	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6995356	0.95[ASN][1000 genomes]
rs7006166	0.92[ASN][1000 genomes]
rs7011340	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7011803	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs720139	0.93[ASN][1000 genomes]
rs720140	0.93[ASN][1000 genomes]
rs730885	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs753995	0.92[ASN][1000 genomes]
rs7818726	0.82[ASN][1000 genomes]
rs7821242	0.92[ASN][1000 genomes]
rs897840	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs897842	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs930877	0.93[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2844256	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2844256	PKHD1L1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110504400-110506400	Weak transcription	K562	blood

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