Variant report

Variant	rs10148620
Chromosome Location	chr14:24830749-24830750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24828734..24832916-chr14:24833862..24837330,5	MCF-7	breast:
2	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
3	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
4	chr14:24805637..24808394-chr14:24829883..24831623,3	MCF-7	breast:
5	chr14:24829049..24830749-chr14:24880028..24883006,2	MCF-7	breast:
6	chr14:24827489..24831979-chr14:24833731..24837565,5	K562	blood:

Variant related genes	Relation type
ENSG00000100968	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10129435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10130279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10139343	0.87[AFR][1000 genomes]
rs10141054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1109152	0.93[CHB][hapmap]
rs1109153	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs11621904	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs12050181	0.93[ASN][1000 genomes]
rs12050389	0.85[ASN][1000 genomes]
rs12433338	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12436417	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs12881276	0.80[ASN][1000 genomes]
rs13379236	0.83[AFR][1000 genomes]
rs2228232	0.80[YRI][hapmap]
rs2332325	0.84[ASN][1000 genomes]
rs28393208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28457795	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28575809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28637873	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28695950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3212242	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs3212243	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs8014112	0.88[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.80[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10148620	DHRS1	cis	multi-tissue	Pritchard

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24829200-24831400	Enhancers	Placenta	Placenta
2	chr14:24829800-24831000	Enhancers	Osteobl	bone
3	chr14:24829800-24832200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:24829800-24832400	Enhancers	NHDF-Ad	bronchial
5	chr14:24830400-24832400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:24830600-24831600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:24830600-24832400	Enhancers	Muscle Satellite Cultured Cells	--

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