Variant report

Variant	rs7717893
Chromosome Location	chr5:8444967-8444968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11134313	1.00[ASN][1000 genomes]
rs11737927	0.86[ASN][1000 genomes]
rs11747903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12517070	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1448232	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16880589	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16880612	0.85[EUR][1000 genomes]
rs16880614	0.85[EUR][1000 genomes]
rs17213483	1.00[ASN][1000 genomes]
rs17279507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2662287	1.00[ASN][1000 genomes]
rs2940549	1.00[ASN][1000 genomes]
rs34840395	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35251251	1.00[ASN][1000 genomes]
rs4461605	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6555546	1.00[ASN][1000 genomes]
rs72733834	1.00[ASN][1000 genomes]
rs72733843	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733845	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733855	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733858	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9717159	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9717161	0.91[EUR][1000 genomes];1.00[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	nsv1033505	chr5:8258074-8657627	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv537634	chr5:8258074-8657627	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026496	chr5:8275119-8681693	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
4	nsv537635	chr5:8275119-8681693	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427709	chr5:8353876-8519855	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv881034	chr5:8376813-8499567	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1025309	chr5:8399380-8466098	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7717893	DAPK1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8438200-8446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:8443200-8457400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:8443400-8456400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:8444600-8445000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:8444600-8445000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:8444600-8445000	ZNF genes & repeats	Dnd41	blood
7	chr5:8444800-8445800	Weak transcription	Primary hematopoietic stem cells	blood

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