Variant report

Variant	rs2572431
Chromosome Location	chr8:11105077-11105078
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	chr8:11101887..11103674-chr8:11105009..11107051,2	K562	blood:
2	chr8:11104140..11105082-chr8:11136652..11137703,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10098488	0.88[CEU][hapmap]
rs10503418	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs11250127	0.84[CEU][hapmap]
rs1347410	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1435278	0.83[EUR][1000 genomes]
rs17797443	0.84[CEU][hapmap]
rs1897950	0.84[CEU][hapmap]
rs2060465	0.84[CEU][hapmap]
rs2099456	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2164272	0.84[CEU][hapmap]
rs2164273	0.84[CEU][hapmap]
rs2293855	0.81[CEU][hapmap]
rs2293856	0.81[CEU][hapmap]
rs2572408	0.93[EUR][1000 genomes]
rs2572417	1.00[CEU][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs2572418	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2572430	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2736277	0.80[CEU][hapmap]
rs2736371	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2736372	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2736375	0.89[EUR][1000 genomes]
rs34171564	0.80[EUR][1000 genomes]
rs3808509	0.84[CEU][hapmap]
rs3808513	0.84[CEU][hapmap]
rs4568582	0.84[CEU][hapmap]
rs6601573	0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs6601574	0.80[EUR][1000 genomes]
rs6601576	0.82[EUR][1000 genomes]
rs6601578	0.81[CEU][hapmap]
rs6985146	0.84[CEU][hapmap]
rs6985460	0.84[CEU][hapmap]
rs6991606	0.84[CEU][hapmap]
rs765731	0.84[EUR][1000 genomes]
rs7824557	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9286062	0.86[TSI][hapmap]
rs958648	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv890353	chr8:11097804-11110503	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2572431	TDH	cis	cerebellum	SCAN
rs2572431	CTSB	cis	cerebellum	SCAN
rs2572431	DEFB136	cis	parietal	SCAN
rs2572431	BLK	cis	lymphoblastoid	seeQTL
rs2572431	C8orf48	cis	cerebellum	SCAN
rs2572431	FLJ10661	cis	cerebellum	SCAN
rs2572431	DEFB134	cis	cerebellum	SCAN
rs2572431	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs2572431	TDH	cis	parietal	SCAN
rs2572431	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs2572431	PRSS55	cis	cerebellum	SCAN
rs2572431	CLDN23	cis	multi-tissue	Pritchard
rs2572431	C8orf13	cis	multi-tissue	Pritchard

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11101200-11116000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11102000-11105600	Weak transcription	GM12878-XiMat	blood
3	chr8:11102400-11108000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:11104800-11106000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:11105000-11106000	Weak transcription	Colon Smooth Muscle	Colon

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