Variant report

Variant	rs12570505
Chromosome Location	chr10:43276878-43276879
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:43276640-43277019	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:43276833-43277261	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:43275094..43277500-chr4:119200265..119202996,2	MCF-7	breast:
2	chr10:43272289..43273994-chr10:43276021..43278160,2	MCF-7	breast:
3	chr10:43132257..43135644-chr10:43275563..43280155,11	MCF-7	breast:
4	chr10:43265661..43268257-chr10:43275827..43278080,2	K562	blood:
5	chr10:43132863..43135217-chr10:43276470..43279459,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33B-5	chr10:43274740-43277953	NONHSAT012930

No data

Variant related genes	Relation type
BMS1	TF binding region
ENSG00000269893	Chromatin interaction
ENSG00000196693	Chromatin interaction
ENSG00000272373	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10466247	0.86[AFR][1000 genomes]
rs10793636	0.88[ASW][hapmap];0.89[LWK][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs10793638	0.88[ASW][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs10900268	0.81[AFR][1000 genomes]
rs10900273	0.81[AFR][1000 genomes]
rs12241247	0.82[AFR][1000 genomes]
rs2419111	0.87[LWK][hapmap];0.86[MKK][hapmap]
rs4379783	0.90[YRI][hapmap];0.88[AFR][1000 genomes]
rs6593491	0.86[YRI][hapmap]
rs6593492	0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs7133	0.88[ASW][hapmap];0.89[LWK][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap]
rs7904312	0.86[YRI][hapmap]
rs7922246	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
2	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers 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
4	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv895076	chr10:43234432-43326627	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12570505	MARCH8	cis	parietal	SCAN
rs12570505	RASSF4	cis	parietal	SCAN
rs12570505	BMS1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43272800-43277200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:43273000-43277200	Weak transcription	HMEC	breast
3	chr10:43273000-43277200	Weak transcription	NHEK	skin
4	chr10:43273400-43277200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:43275200-43277200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr10:43275600-43277400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr10:43276800-43277200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr10:43276800-43277200	Enhancers	Duodenum Mucosa	Duodenum
9	chr10:43276800-43277400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:43276800-43277400	Enhancers	K562	blood
11	chr10:43276800-43277600	Enhancers	Spleen	Spleen

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