Variant report

Variant	rs1783160
Chromosome Location	chr8:110509913-110509914
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:133996695..133999397-chr8:110508706..110510962,2	MCF-7	breast:
2	chr8:110506183..110508052-chr8:110509587..110512256,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235010	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1009371	0.86[EUR][1000 genomes]
rs10108943	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1013482	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1026437	0.82[EUR][1000 genomes]
rs1379361	0.82[EUR][1000 genomes]
rs1379366	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1457282	0.82[EUR][1000 genomes]
rs1457283	0.82[EUR][1000 genomes]
rs1457288	0.82[EUR][1000 genomes]
rs1630134	0.81[EUR][1000 genomes]
rs1630942	0.82[EUR][1000 genomes]
rs1673411	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1673415	0.82[EUR][1000 genomes]
rs1673416	0.82[EUR][1000 genomes]
rs1673419	0.82[EUR][1000 genomes]
rs1673420	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1673421	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1673424	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1673425	0.82[EUR][1000 genomes]
rs1673426	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17377636	0.82[EUR][1000 genomes]
rs17449762	0.86[EUR][1000 genomes]
rs1783140	0.82[EUR][1000 genomes]
rs1783147	0.82[EUR][1000 genomes]
rs1783148	0.82[EUR][1000 genomes]
rs1783153	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1783154	0.82[EUR][1000 genomes]
rs1783155	0.82[EUR][1000 genomes]
rs1783157	0.82[EUR][1000 genomes]
rs1783158	0.82[EUR][1000 genomes]
rs1783159	0.85[EUR][1000 genomes]
rs1783161	0.80[EUR][1000 genomes]
rs1783162	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1783166	0.86[EUR][1000 genomes]
rs1783168	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1783170	0.86[EUR][1000 genomes]
rs1783175	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2607627	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2607628	0.82[EUR][1000 genomes]
rs2607629	0.82[EUR][1000 genomes]
rs2607630	0.82[EUR][1000 genomes]
rs2607631	0.82[EUR][1000 genomes]
rs2607632	0.85[EUR][1000 genomes]
rs2607633	0.82[EUR][1000 genomes]
rs2607636	0.82[EUR][1000 genomes]
rs2844254	0.82[EUR][1000 genomes]
rs2844255	0.82[EUR][1000 genomes]
rs6995356	0.82[EUR][1000 genomes]
rs7006166	0.86[EUR][1000 genomes]
rs720139	0.82[EUR][1000 genomes]
rs720140	0.81[EUR][1000 genomes]
rs7821242	0.82[EUR][1000 genomes]
rs930877	0.82[EUR][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	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
2	esv2554092	chr8:110509394-110511181	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3428944	chr8:110509626-110511624	Inactive region	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1783160	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs1783160	PKHD1L1	cis	Thyroid	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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