Variant report

Variant	rs8040071
Chromosome Location	chr15:34504160-34504161
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	chr15:34500839..34504564-chr15:34529168..34532268,3	K562	blood:
2	chr15:34391225..34395745-chr15:34498845..34504196,8	K562	blood:

Variant related genes	Relation type
ENSG00000182405	Chromatin interaction
ENSG00000140199	Chromatin interaction
ENSG00000134153	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10851952	0.85[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10851955	0.81[ASN][1000 genomes]
rs11073010	0.84[ASN][1000 genomes]
rs11073014	0.84[ASN][1000 genomes]
rs11073019	0.86[ASN][1000 genomes]
rs1133154	0.85[CHD][hapmap]
rs11635964	0.82[ASN][1000 genomes]
rs11636442	0.83[CHD][hapmap]
rs11858408	0.85[ASN][1000 genomes]
rs12050753	0.85[CHD][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap]
rs12437551	0.91[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs12441003	0.83[ASN][1000 genomes]
rs12442758	0.87[ASN][1000 genomes]
rs12592460	0.92[ASN][1000 genomes]
rs12917397	0.82[ASN][1000 genomes]
rs16958835	0.83[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs16958836	0.83[CHB][hapmap]
rs16958878	0.85[CHD][hapmap]
rs17236777	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs17236784	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs17236798	0.84[JPT][hapmap]
rs17817800	0.84[JPT][hapmap];0.81[MEX][hapmap]
rs17817806	0.88[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap]
rs2244040	0.88[CHD][hapmap]
rs2290940	0.88[CHD][hapmap];0.84[JPT][hapmap]
rs2290941	0.88[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap]
rs2290942	0.88[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap]
rs28375867	0.90[ASN][1000 genomes]
rs28418847	0.90[ASN][1000 genomes]
rs34187931	0.90[ASN][1000 genomes]
rs4238572	0.85[CHD][hapmap]
rs4381574	0.85[ASN][1000 genomes]
rs4530104	0.82[CHD][hapmap]
rs4780227	0.86[ASN][1000 genomes]
rs4780229	0.85[ASN][1000 genomes]
rs57626952	0.81[ASN][1000 genomes]
rs57834992	0.90[ASN][1000 genomes]
rs60905714	0.90[ASN][1000 genomes]
rs61054243	0.82[ASN][1000 genomes]
rs6495619	0.96[ASN][1000 genomes]
rs6495620	0.94[ASN][1000 genomes]
rs6495621	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6495625	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168619	0.95[ASN][1000 genomes]
rs7168761	0.92[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.95[ASN][1000 genomes]
rs7173618	0.90[ASN][1000 genomes]
rs7174014	0.96[ASN][1000 genomes]
rs7174442	0.80[CHD][hapmap]
rs7178002	0.83[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs7178203	0.80[CHD][hapmap]
rs7180024	0.90[ASN][1000 genomes]
rs7180920	0.92[ASN][1000 genomes]
rs73380107	0.86[ASN][1000 genomes]
rs73380126	0.90[ASN][1000 genomes]
rs73380135	0.90[ASN][1000 genomes]
rs73380141	0.90[ASN][1000 genomes]
rs73380157	0.90[ASN][1000 genomes]
rs8025406	0.83[CHD][hapmap]
rs8027499	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs8035954	0.85[CHD][hapmap]
rs8036468	0.97[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs8041586	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8043216	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs9944206	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8040071	NOP10	cis	cerebellum	SCAN
rs8040071	NOP10	cis	Artery Tibial	GTEx
rs8040071	TMEM85	cis	cerebellum	SCAN
rs8040071	NOP10	cis	parietal	SCAN
rs8040071	NOLA3	cis	multi-tissue	Pritchard
rs8040071	SLC12A6	cis	Thyroid	GTEx
rs8040071	NOP10	cis	Nerve Tibial	GTEx
rs8040071	NOP10	cis	Thyroid	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34502400-34504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr15:34502400-34504600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr15:34502400-34504600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:34502400-34504600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:34502400-34504600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:34502400-34504600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:34502600-34504400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:34502600-34506200	Weak transcription	Fetal Thymus	thymus
9	chr15:34502600-34510000	Weak transcription	NHLF	lung
10	chr15:34502800-34504600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:34503200-34504600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:34503600-34506600	Weak transcription	K562	blood
13	chr15:34503800-34506000	Enhancers	HUES48 Cell Line	embryonic stem cell

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