Variant report

Variant	rs9468209
Chromosome Location	chr6:27694421-27694422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27694126..27696434-chr6:27711146..27712696,2	K562	blood:
2	chr6:27687897..27691780-chr6:27691811..27694513,3	MCF-7	breast:
3	chr6:27687163..27689366-chr6:27693364..27696456,4	K562	blood:
4	chr6:27692126..27696307-chr6:27696693..27700869,4	K562	blood:
5	chr6:27655233..27656837-chr6:27693147..27694855,2	K562	blood:
6	chr6:27251230..27254173-chr6:27693136..27695463,2	K562	blood:
7	chr6:27655233..27657099-chr6:27693355..27695720,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1022486	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs10946935	0.86[JPT][hapmap]
rs10946938	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs10946940	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs200480	0.85[ASW][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];0.83[ASN][1000 genomes]
rs2056924	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2179096	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2294480	0.88[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs2294481	0.91[JPT][hapmap]
rs4713112	0.86[JPT][hapmap]
rs4713120	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57252182	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6456799	0.91[JPT][hapmap]
rs6915266	0.86[JPT][hapmap]
rs6915987	0.88[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap]
rs6916878	0.83[JPT][hapmap]
rs6921256	0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6934437	0.86[JPT][hapmap]
rs6934794	0.85[JPT][hapmap]
rs7764081	0.86[JPT][hapmap]
rs9295747	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9348772	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs9368527	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9380007	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9393830	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs9393831	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs9468213	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs9468209	HIST1H3I	cis	cerebellum	SCAN
rs9468209	ZNF323	cis	cerebellum	SCAN
rs9468209	ZKSCAN3	cis	parietal	SCAN
rs9468209	AL022393.7	cis	Muscle Skeletal	GTEx
rs9468209	ABT1	cis	cerebellum	SCAN
rs9468209	ZSCAN23	cis	cerebellum	SCAN
rs9468209	ZNF323	cis	parietal	SCAN
rs9468209	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs9468209	ZKSCAN3	cis	cerebellum	SCAN
rs9468209	ZSCAN16	cis	parietal	SCAN
rs9468209	BTN3A3	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27694400-27694600	Active TSS	HepG2	liver
2	chr6:27694400-27694800	Enhancers	K562	blood
3	chr6:27694400-27697600	Weak transcription	A549	lung

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