Variant report

Variant	rs10065419
Chromosome Location	chr5:178067886-178067887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178054847..178056678-chr5:178067285..178069085,2	K562	blood:
2	chr5:178053270..178056347-chr5:178066420..178069487,3	K562	blood:
3	chr5:178052435..178056379-chr5:178060810..178069102,10	MCF-7	breast:
4	chr5:178058537..178060660-chr5:178067167..178069118,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113240	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10035557	0.81[ASN][1000 genomes]
rs10051137	0.81[ASN][1000 genomes]
rs10061455	0.88[ASN][1000 genomes]
rs10061883	0.89[ASN][1000 genomes]
rs10064009	0.89[ASN][1000 genomes]
rs10070794	0.89[ASN][1000 genomes]
rs10073925	0.83[ASN][1000 genomes]
rs10479501	0.89[ASN][1000 genomes]
rs11742564	0.90[ASN][1000 genomes]
rs11744815	0.90[ASN][1000 genomes]
rs11748909	0.81[ASN][1000 genomes]
rs12654185	0.88[ASN][1000 genomes]
rs12654187	0.88[ASN][1000 genomes]
rs12719855	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161074	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13187977	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13360296	0.85[ASN][1000 genomes]
rs1472457	0.81[ASN][1000 genomes]
rs1967419	0.82[ASN][1000 genomes]
rs2335442	0.81[ASN][1000 genomes]
rs262021	0.81[ASN][1000 genomes]
rs262028	0.81[ASN][1000 genomes]
rs262036	0.81[ASN][1000 genomes]
rs388749	0.82[ASN][1000 genomes]
rs4073633	0.89[ASN][1000 genomes]
rs4077796	0.85[ASN][1000 genomes]
rs4079109	0.89[ASN][1000 genomes]
rs4079111	0.89[ASN][1000 genomes]
rs4079112	0.89[ASN][1000 genomes]
rs4301240	0.89[ASN][1000 genomes]
rs4413550	0.89[ASN][1000 genomes]
rs4418123	0.89[ASN][1000 genomes]
rs4437394	0.89[ASN][1000 genomes]
rs4521498	0.90[ASN][1000 genomes]
rs4976798	0.81[ASN][1000 genomes]
rs6600942	0.91[ASN][1000 genomes]
rs6866336	0.81[ASN][1000 genomes]
rs6866952	0.84[ASN][1000 genomes]
rs6869889	0.87[ASN][1000 genomes]
rs6871074	0.88[ASN][1000 genomes]
rs6874126	0.83[ASN][1000 genomes]
rs721142	0.81[ASN][1000 genomes]
rs721143	0.81[ASN][1000 genomes]
rs73353860	0.87[ASN][1000 genomes]
rs73353883	0.88[ASN][1000 genomes]
rs752043	0.81[ASN][1000 genomes]
rs7707891	0.88[ASN][1000 genomes]
rs7715291	0.81[ASN][1000 genomes]
rs7720708	0.81[ASN][1000 genomes]
rs7736565	0.81[ASN][1000 genomes]
rs776153	0.81[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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	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
rs10065419	CLK4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178065000-178069600	Weak transcription	Spleen	Spleen
2	chr5:178065800-178068000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:178067000-178068600	Weak transcription	Placenta	Placenta
4	chr5:178067400-178068000	Enhancers	NHEK	skin
5	chr5:178067400-178070400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:178067400-178070800	Enhancers	HMEC	breast
7	chr5:178067600-178070200	Enhancers	NHDF-Ad	bronchial
8	chr5:178067600-178070800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:178067600-178072400	Enhancers	Osteobl	bone
10	chr5:178067800-178068000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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