Variant report

Variant	rs2784874
Chromosome Location	chr6:163796035-163796036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163790875..163792483-chr6:163795194..163796907,2	K562	blood:
2	chr6:163764450..163766246-chr6:163795182..163797686,2	K562	blood:
3	chr6:163795985..163798916-chr6:163834719..163837021,2	K562	blood:
4	chr6:163795985..163800346-chr6:163833926..163837021,4	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1016501	1.00[CHB][hapmap]
rs1016502	1.00[CHB][hapmap]
rs1040514	1.00[CHB][hapmap]
rs1230321	1.00[CHB][hapmap]
rs1234603	1.00[CHB][hapmap]
rs1234604	1.00[CHB][hapmap]
rs1619076	1.00[CHB][hapmap]
rs1629251	1.00[CHB][hapmap]
rs1737317	1.00[CHB][hapmap]
rs1737323	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs1737329	1.00[CHB][hapmap]
rs1737333	1.00[CHB][hapmap]
rs1737600	1.00[CHB][hapmap];0.87[GIH][hapmap]
rs1737601	1.00[CHB][hapmap]
rs1737603	1.00[CHB][hapmap]
rs1737604	1.00[CHB][hapmap]
rs1737606	1.00[CHB][hapmap]
rs1737607	1.00[CHB][hapmap]
rs1737611	1.00[CHB][hapmap]
rs1744924	1.00[CHB][hapmap]
rs1744925	1.00[CHB][hapmap]
rs1744926	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs1744927	1.00[CHB][hapmap]
rs1744933	1.00[CHB][hapmap]
rs1764008	1.00[CHB][hapmap]
rs2038147	1.00[CHB][hapmap]
rs2057003	1.00[CHB][hapmap]
rs2064223	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2064225	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2064228	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2064229	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2092406	1.00[CHB][hapmap]
rs2179524	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs2321702	1.00[CHB][hapmap]
rs2745364	1.00[CHB][hapmap]
rs2757580	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2757581	1.00[CHB][hapmap]
rs2757586	1.00[CHB][hapmap]
rs2757587	1.00[CHB][hapmap]
rs2757588	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2757589	1.00[CHB][hapmap]
rs2759383	1.00[CHB][hapmap]
rs2759384	1.00[CHB][hapmap]
rs2759385	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap]
rs2759387	1.00[CHB][hapmap]
rs2759388	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap]
rs2759390	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2759391	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap]
rs2759392	1.00[CHB][hapmap]
rs2759395	1.00[CHB][hapmap]
rs2784865	1.00[CHB][hapmap]
rs2784867	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2874602	1.00[CHB][hapmap]
rs4708997	1.00[CHB][hapmap]
rs6455902	1.00[CHB][hapmap]
rs6914387	1.00[CHB][hapmap]
rs6917030	0.86[ASN][1000 genomes]
rs6924130	1.00[CHB][hapmap]
rs6926584	1.00[CHB][hapmap]
rs721190	1.00[CHB][hapmap]
rs721191	1.00[CHB][hapmap]
rs73013516	0.86[ASN][1000 genomes]
rs73013528	0.86[ASN][1000 genomes]
rs7748261	0.86[ASN][1000 genomes]
rs7749189	1.00[CHB][hapmap]
rs7761088	1.00[CHB][hapmap]
rs7768051	1.00[CHB][hapmap]
rs7769145	1.00[CHB][hapmap]
rs783136	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs783138	1.00[CHB][hapmap]
rs783140	1.00[CHB][hapmap]
rs813640	1.00[CHB][hapmap]
rs814143	1.00[CHB][hapmap]
rs9295222	1.00[CHB][hapmap]
rs9295223	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs9295224	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs9347754	1.00[CHB][hapmap]
rs9347755	1.00[CHB][hapmap]
rs9347756	1.00[CHB][hapmap]
rs9355427	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9356117	1.00[CHB][hapmap]
rs9365565	0.81[CEU][hapmap]
rs9365573	1.00[CHB][hapmap]
rs9456869	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv970668	chr6:163792636-163802489	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2784874	QKI	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163791000-163813000	Weak transcription	Right Atrium	heart
2	chr6:163792400-163796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:163792400-163796400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:163794600-163796400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:163794600-163801200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:163795200-163800000	Weak transcription	Spleen	Spleen
7	chr6:163796000-163796600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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