Variant report

Variant	rs73560996
Chromosome Location	chr19:52046280-52046281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52038651..52041240-chr19:52044737..52046405,3	K562	blood:
2	chr19:52045424..52047924-chr19:52076002..52077795,2	K562	blood:

Variant related genes	Relation type
ENSG00000105497	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16982740	0.82[ASN][1000 genomes]
rs16982743	0.85[ASN][1000 genomes]
rs17305017	0.92[ASN][1000 genomes]
rs56815351	0.92[ASN][1000 genomes]
rs58356296	1.00[ASN][1000 genomes]
rs58758423	0.92[ASN][1000 genomes]
rs59302710	0.92[ASN][1000 genomes]
rs59372820	0.82[ASN][1000 genomes]
rs60467951	0.96[ASN][1000 genomes]
rs60618267	0.96[ASN][1000 genomes]
rs7247380	0.92[ASN][1000 genomes]
rs73051351	0.82[ASN][1000 genomes]
rs73560907	0.92[AFR][1000 genomes]
rs73560908	0.92[AFR][1000 genomes]
rs73560910	0.92[AFR][1000 genomes]
rs73560919	0.92[AFR][1000 genomes]
rs73560980	0.92[AFR][1000 genomes]
rs73560984	0.92[AFR][1000 genomes]
rs73560985	0.92[AFR][1000 genomes]
rs73560988	0.92[AFR][1000 genomes]
rs73560991	0.92[AFR][1000 genomes]
rs73560993	0.98[AFR][1000 genomes]
rs73560995	1.00[AFR][1000 genomes]
rs8100001	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr19:52045200-52049200	Enhancers	K562	blood
2	chr19:52045600-52046600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
3	chr19:52046000-52046400	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:52046000-52048800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:52046200-52046400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links