Variant report

Variant	rs59308952
Chromosome Location	chr3:159939842-159939843
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr3:159939600-159940076	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:159933380..159934945-chr3:159937603..159940021,2	K562	blood:

Variant related genes	Relation type
C3orf80	TF binding region
ENSG00000244078	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11929258	1.00[EUR][1000 genomes]
rs12106837	1.00[EUR][1000 genomes]
rs12107576	1.00[EUR][1000 genomes]
rs2275150	1.00[EUR][1000 genomes]
rs2278848	1.00[EUR][1000 genomes]
rs3773370	1.00[EUR][1000 genomes]
rs56804721	1.00[EUR][1000 genomes]
rs56992472	1.00[EUR][1000 genomes]
rs57094479	1.00[EUR][1000 genomes]
rs57310422	1.00[EUR][1000 genomes]
rs58993492	1.00[EUR][1000 genomes]
rs60535227	1.00[EUR][1000 genomes]
rs6441309	1.00[EUR][1000 genomes]
rs6441310	1.00[EUR][1000 genomes]
rs6764227	1.00[EUR][1000 genomes]
rs6773833	1.00[EUR][1000 genomes]
rs6773856	1.00[EUR][1000 genomes]
rs6793718	1.00[EUR][1000 genomes]
rs6808628	1.00[EUR][1000 genomes]
rs7635305	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv877699	chr3:159820488-159976271	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159935800-159940600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:159938400-159940200	Enhancers	Rectal Smooth Muscle	rectum
3	chr3:159938600-159942800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:159938800-159943000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:159939800-159942000	Weak transcription	Colon Smooth Muscle	Colon

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