Variant report

Variant	rs57344387
Chromosome Location	chr8:62742619-62742620
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62741831..62744985-chr8:62746789..62749495,5	K562	blood:
2	chr8:62741831..62743979-chr8:62747018..62749495,2	K562	blood:

Variant related genes	Relation type
ENSG00000254119	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10088053	0.90[ASN][1000 genomes]
rs12544982	0.91[AFR][1000 genomes]
rs12545018	0.91[AFR][1000 genomes]
rs16928033	0.90[ASN][1000 genomes]
rs16928035	0.90[ASN][1000 genomes]
rs1948507	0.91[AFR][1000 genomes]
rs1948508	0.91[AFR][1000 genomes]
rs2350926	0.91[AFR][1000 genomes]
rs28793274	0.90[ASN][1000 genomes]
rs56016636	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56125512	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56235963	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56741469	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs58080416	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58710029	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58960042	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59120662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60520860	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61568322	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6471975	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66667350	0.90[ASN][1000 genomes]
rs67870277	0.90[ASN][1000 genomes]
rs6991008	0.90[ASN][1000 genomes]
rs7008718	0.90[ASN][1000 genomes]
rs7012432	0.90[ASN][1000 genomes]
rs7012678	0.90[ASN][1000 genomes]
rs73255128	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73255147	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73255155	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73255157	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73682603	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73682605	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73685132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73685137	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73685139	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73685145	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73685148	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73685149	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73685158	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73685159	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7820373	0.97[AFR][1000 genomes];0.87[EUR][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv3363755	chr8:62702301-62764282	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv611427	chr8:62733267-62848952	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv831338	chr8:62736394-62913048	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62735400-62745000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:62738800-62745000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:62739400-62750000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:62740600-62743600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:62740600-62743800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:62740800-62743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:62742400-62743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links