Variant report

Variant	rs73599687
Chromosome Location	chr8:19794122-19794123
allele	C/T
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	IRF1	chr8:19794032-19794250	K562	blood:	n/a	n/a
2	POLR2A	chr8:19794079-19795260	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19793876..19796137-chr8:19796466..19799568,3	K562	blood:

Variant related genes	Relation type
LPL	TF binding region
ENSG00000175445	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12115034	1.00[AMR][1000 genomes]
rs262	1.00[AMR][1000 genomes]
rs56952689	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57996813	1.00[AMR][1000 genomes]
rs60929355	1.00[AMR][1000 genomes]
rs61274012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7001486	1.00[AMR][1000 genomes]
rs73600088	1.00[AMR][1000 genomes]
rs73601683	1.00[AMR][1000 genomes]
rs73606088	1.00[AMR][1000 genomes]
rs73606089	1.00[AMR][1000 genomes]
rs73608005	1.00[AMR][1000 genomes]
rs73612187	1.00[AMR][1000 genomes]
rs73612194	1.00[AMR][1000 genomes]
rs73612196	1.00[AMR][1000 genomes]
rs73612198	1.00[AMR][1000 genomes]
rs73612199	1.00[AMR][1000 genomes]
rs73614229	1.00[AMR][1000 genomes]
rs73614265	1.00[AMR][1000 genomes]
rs7825694	1.00[AMR][1000 genomes]
rs7836566	1.00[AMR][1000 genomes]
rs7844257	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS 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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	2 gene(s)	inside rSNPs	diseases
4	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19794000-19794200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
2	chr8:19794000-19794200	Bivalent/Poised TSS	Fetal Thymus	thymus
3	chr8:19794000-19794400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:19794000-19796000	Enhancers	Fetal Heart	heart

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