Variant report

Variant	rs10100944
Chromosome Location	chr8:110425552-110425553
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110401827..110406627-chr8:110422630..110427187,6	K562	blood:
2	chr8:110424209..110426858-chr8:110430949..110433063,2	K562	blood:
3	chr8:110415571..110417491-chr8:110425418..110428260,2	K562	blood:
4	chr8:110424030..110426775-chr8:110434347..110438153,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10093885	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108704	1.00[ASN][1000 genomes]
rs11550169	1.00[JPT][hapmap]
rs11778756	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784792	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785973	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438836	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563581	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17368044	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375750	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs17445342	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17446406	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892761	0.81[EUR][1000 genomes]
rs28463252	1.00[ASN][1000 genomes]
rs28491535	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800074	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959787	0.81[EUR][1000 genomes]
rs56109503	0.84[EUR][1000 genomes]
rs56379526	0.84[EUR][1000 genomes]
rs59237049	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60189528	1.00[ASN][1000 genomes]
rs61467163	1.00[ASN][1000 genomes]
rs6469255	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469264	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs6982826	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6995033	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs6999170	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008687	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669109	0.84[EUR][1000 genomes]
rs72669111	0.84[EUR][1000 genomes]
rs72669122	0.82[EUR][1000 genomes]
rs72669124	0.82[EUR][1000 genomes]
rs72669127	0.82[EUR][1000 genomes]
rs72669129	0.81[EUR][1000 genomes]
rs72669131	0.81[EUR][1000 genomes]
rs72682697	1.00[ASN][1000 genomes]
rs72684719	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684799	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687010	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687015	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816624	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817639	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818929	1.00[ASN][1000 genomes]
rs7820734	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835131	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836433	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842842	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs9656791	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656881	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv1832336	chr8:110397738-110437384	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1018510	chr8:110403496-110504029	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10100944	EBAG9	cis	parietal	SCAN
rs10100944	Hs.171169	cis	multi-tissue	Pritchard
rs10100944	PKHD1L1	cis	lymphoblastoid	seeQTL
rs10100944	ANGPT1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110424800-110425800	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links