Variant report

Variant	rs10504216
Chromosome Location	chr8:57981470-57981471
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	chr8:57975894..57977879-chr8:57979464..57981694,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11774585	0.84[CHB][hapmap]
rs11774645	0.84[CHB][hapmap]
rs11774697	0.84[CHB][hapmap]
rs11781690	0.84[CHB][hapmap]
rs11785258	0.84[CHB][hapmap]
rs11785260	0.84[CHB][hapmap]
rs11786043	0.84[CHB][hapmap]
rs11786074	0.84[CHB][hapmap]
rs11786328	0.84[CHB][hapmap]
rs11786527	0.84[CHB][hapmap]
rs11786843	0.84[CHB][hapmap]
rs12216730	0.89[EUR][1000 genomes]
rs16921589	0.85[EUR][1000 genomes]
rs16921808	0.83[CHB][hapmap]
rs17194487	0.84[CHB][hapmap]
rs17794451	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17802082	0.84[CHB][hapmap]
rs2317990	0.85[EUR][1000 genomes]
rs4738567	0.89[EUR][1000 genomes]
rs58647001	0.84[EUR][1000 genomes]
rs6996550	0.84[CHB][hapmap]
rs6998040	0.84[CHB][hapmap]
rs7000752	0.81[EUR][1000 genomes]
rs7013554	0.84[CHB][hapmap]
rs72649115	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7460059	0.84[CHB][hapmap]
rs7463453	0.84[CHB][hapmap]
rs7813252	0.84[CHB][hapmap]
rs7822631	0.84[CHB][hapmap]
rs7839948	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv508510	chr8:57967028-57994116	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10504216	RP11-513O17.2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57978800-57982400	Enhancers	Stomach Mucosa	stomach
2	chr8:57981200-57981600	Enhancers	Pancreas	Pancrea
3	chr8:57981200-57982400	Enhancers	HUVEC	blood vessel
4	chr8:57981400-57981600	Enhancers	Adipose Nuclei	Adipose

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