Variant report

Variant	rs4735130
Chromosome Location	chr8:110369269-110369270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110364088..110366358-chr8:110368045..110369724,2	K562	blood:
2	chr8:110365000..110368622-chr8:110368906..110372128,4	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10088918	0.87[ASN][1000 genomes]
rs10097258	0.87[ASN][1000 genomes]
rs10098672	0.86[ASN][1000 genomes]
rs10099126	0.86[ASN][1000 genomes]
rs10101522	0.87[ASN][1000 genomes]
rs1037695	0.85[ASN][1000 genomes]
rs10458302	0.84[ASN][1000 genomes]
rs10955518	0.87[ASN][1000 genomes]
rs12334438	0.85[ASN][1000 genomes]
rs12550601	0.87[ASN][1000 genomes]
rs12680439	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13252234	0.87[ASN][1000 genomes]
rs13254245	0.87[ASN][1000 genomes]
rs13254461	0.87[ASN][1000 genomes]
rs13258279	0.84[ASN][1000 genomes]
rs13262995	0.84[ASN][1000 genomes]
rs13264576	0.84[ASN][1000 genomes]
rs13264587	0.84[ASN][1000 genomes]
rs13266285	0.86[ASN][1000 genomes]
rs13266293	0.84[ASN][1000 genomes]
rs13266374	0.88[ASN][1000 genomes]
rs13266838	0.88[ASN][1000 genomes]
rs13267428	0.86[ASN][1000 genomes]
rs13268429	0.86[ASN][1000 genomes]
rs13278812	0.86[ASN][1000 genomes]
rs1379363	0.87[ASN][1000 genomes]
rs1379364	0.87[ASN][1000 genomes]
rs1379365	0.87[ASN][1000 genomes]
rs1379369	0.85[ASN][1000 genomes]
rs1379370	0.85[ASN][1000 genomes]
rs1457287	0.85[ASN][1000 genomes]
rs1457289	0.85[ASN][1000 genomes]
rs1457290	0.85[ASN][1000 genomes]
rs1457291	0.86[ASN][1000 genomes]
rs1457292	0.87[ASN][1000 genomes]
rs1457293	0.87[ASN][1000 genomes]
rs1458920	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16879470	0.88[ASN][1000 genomes]
rs1824193	0.87[ASN][1000 genomes]
rs1870107	0.82[ASN][1000 genomes]
rs1870108	0.87[ASN][1000 genomes]
rs1870109	0.85[ASN][1000 genomes]
rs2061294	0.85[ASN][1000 genomes]
rs2061295	0.85[ASN][1000 genomes]
rs2124982	0.87[ASN][1000 genomes]
rs2349436	0.87[ASN][1000 genomes]
rs2349759	0.87[ASN][1000 genomes]
rs2349761	0.85[ASN][1000 genomes]
rs2926224	0.81[ASN][1000 genomes]
rs2926225	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4348463	0.87[ASN][1000 genomes]
rs4604408	0.85[ASN][1000 genomes]
rs4734212	0.87[ASN][1000 genomes]
rs4735133	0.83[ASN][1000 genomes]
rs4735134	0.84[ASN][1000 genomes]
rs6469256	0.84[ASN][1000 genomes]
rs6469257	0.85[ASN][1000 genomes]
rs6469260	0.84[ASN][1000 genomes]
rs6469262	0.83[ASN][1000 genomes]
rs6982748	0.87[ASN][1000 genomes]
rs6987198	0.80[ASN][1000 genomes]
rs6993467	0.84[ASN][1000 genomes]
rs6993552	0.87[ASN][1000 genomes]
rs6999505	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7002606	0.87[ASN][1000 genomes]
rs7002926	0.87[ASN][1000 genomes]
rs7014589	0.84[ASN][1000 genomes]
rs7015262	0.84[ASN][1000 genomes]
rs7016609	0.85[ASN][1000 genomes]
rs7818553	0.85[ASN][1000 genomes]
rs7819141	0.87[ASN][1000 genomes]
rs7819151	0.86[ASN][1000 genomes]
rs897838	0.86[ASN][1000 genomes]
rs897839	0.87[ASN][1000 genomes]
rs921959	0.87[ASN][1000 genomes]
rs9297425	0.87[ASN][1000 genomes]
rs9642806	0.86[ASN][1000 genomes]
rs964307	0.87[ASN][1000 genomes]
rs9656793	0.87[ASN][1000 genomes]
rs9656882	0.87[ASN][1000 genomes]
rs965930	0.87[ASN][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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4735130	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110364800-110374800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:110367400-110372600	Weak transcription	K562	blood

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