Variant report

Variant	rs4130682
Chromosome Location	chr8:110120328-110120329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10086023	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10088496	0.81[ASN][1000 genomes]
rs10089544	0.81[ASN][1000 genomes]
rs10091155	0.80[ASN][1000 genomes]
rs10098145	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10101048	0.81[ASN][1000 genomes]
rs10101050	0.81[ASN][1000 genomes]
rs10101189	0.81[ASN][1000 genomes]
rs10101520	0.81[ASN][1000 genomes]
rs10505126	0.85[ASN][1000 genomes]
rs10955505	0.85[ASN][1000 genomes]
rs10955508	0.81[ASN][1000 genomes]
rs10955510	0.81[ASN][1000 genomes]
rs10955511	0.80[ASN][1000 genomes]
rs10955512	0.81[ASN][1000 genomes]
rs11775991	0.81[ASN][1000 genomes]
rs11778370	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11785243	0.81[ASN][1000 genomes]
rs11785269	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11985765	0.83[ASN][1000 genomes]
rs11986161	0.81[ASN][1000 genomes]
rs11992816	0.83[ASN][1000 genomes]
rs11994164	0.81[ASN][1000 genomes]
rs11994227	0.81[ASN][1000 genomes]
rs11995419	0.80[ASN][1000 genomes]
rs11997974	0.81[ASN][1000 genomes]
rs12542811	0.81[ASN][1000 genomes]
rs12542959	0.81[ASN][1000 genomes]
rs12543246	0.84[ASN][1000 genomes]
rs12544150	0.81[ASN][1000 genomes]
rs12544197	0.82[CHB][hapmap]
rs12544462	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12544503	0.81[ASN][1000 genomes]
rs12549347	0.81[ASN][1000 genomes]
rs12549397	0.81[ASN][1000 genomes]
rs12550383	0.81[ASN][1000 genomes]
rs12675753	0.81[ASN][1000 genomes]
rs12679311	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12680028	0.83[ASN][1000 genomes]
rs12680451	0.80[ASN][1000 genomes]
rs12682610	0.80[ASN][1000 genomes]
rs13251597	0.80[ASN][1000 genomes]
rs13254233	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13265151	0.81[ASN][1000 genomes]
rs13269597	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13282488	0.81[ASN][1000 genomes]
rs1380096	0.87[CHB][hapmap]
rs1380097	0.87[CHB][hapmap]
rs1458915	0.87[CHB][hapmap]
rs1458916	0.87[CHB][hapmap]
rs1458917	0.87[CHB][hapmap]
rs1548082	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1548083	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs16892486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16892496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28407429	0.80[ASN][1000 genomes]
rs28413119	0.81[ASN][1000 genomes]
rs28437828	0.81[ASN][1000 genomes]
rs2926198	0.87[CHB][hapmap]
rs2980603	0.87[CHB][hapmap]
rs2980618	0.86[JPT][hapmap]
rs2980624	0.87[CHB][hapmap]
rs34049275	0.80[ASN][1000 genomes]
rs34092076	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35850605	0.80[ASN][1000 genomes]
rs35978837	0.81[ASN][1000 genomes]
rs3925087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925088	0.85[ASN][1000 genomes]
rs4129682	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4236801	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4236802	0.85[ASN][1000 genomes]
rs4236803	0.80[ASN][1000 genomes]
rs4265160	0.80[ASN][1000 genomes]
rs4288351	0.80[ASN][1000 genomes]
rs4301422	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4342559	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4358779	0.81[ASN][1000 genomes]
rs4386952	0.86[CHB][hapmap]
rs4389899	0.81[ASN][1000 genomes]
rs4428648	0.81[ASN][1000 genomes]
rs4439099	0.81[ASN][1000 genomes]
rs4442117	0.81[ASN][1000 genomes]
rs4443632	0.81[ASN][1000 genomes]
rs4446710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4454252	0.80[ASN][1000 genomes]
rs4464939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4529440	0.81[ASN][1000 genomes]
rs4546626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4570131	0.80[ASN][1000 genomes]
rs4645539	0.81[ASN][1000 genomes]
rs4734190	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734191	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734192	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734196	0.81[ASN][1000 genomes]
rs4734197	0.81[ASN][1000 genomes]
rs4734198	0.81[ASN][1000 genomes]
rs4734203	0.80[ASN][1000 genomes]
rs4734204	0.80[ASN][1000 genomes]
rs4735091	0.85[ASN][1000 genomes]
rs4735092	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4735093	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4735094	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4735095	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4735096	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4735097	0.88[ASN][1000 genomes]
rs4735098	0.88[ASN][1000 genomes]
rs4735108	0.81[ASN][1000 genomes]
rs4735109	0.81[ASN][1000 genomes]
rs4735110	0.81[ASN][1000 genomes]
rs4735114	0.80[ASN][1000 genomes]
rs56896876	0.81[ASN][1000 genomes]
rs5778	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62511091	0.80[ASN][1000 genomes]
rs6983376	0.81[ASN][1000 genomes]
rs6990140	0.81[ASN][1000 genomes]
rs6994788	0.81[ASN][1000 genomes]
rs6998731	0.80[ASN][1000 genomes]
rs6998883	0.80[ASN][1000 genomes]
rs7010380	0.81[ASN][1000 genomes]
rs7817746	0.80[ASN][1000 genomes]
rs7817909	0.80[ASN][1000 genomes]
rs7821463	0.85[ASN][1000 genomes]
rs7823804	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7825689	0.81[ASN][1000 genomes]
rs7828207	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7829544	0.88[ASN][1000 genomes]
rs7832552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840000	0.85[ASN][1000 genomes]
rs7844643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7845815	0.81[ASN][1000 genomes]
rs9297421	0.88[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	nsv1022273	chr8:110026712-110146600	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv539715	chr8:110026712-110146600	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4130682	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110119400-110121400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:110119600-110120600	Enhancers	Fetal Lung	lung
3	chr8:110119600-110121400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:110120200-110121400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:110120200-110121400	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links