Variant report

Variant	rs7215833
Chromosome Location	chr17:17507308-17507309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17504788..17507617-chr17:17507933..17511069,3	K562	blood:
2	chr17:17495233..17498168-chr17:17505537..17510752,5	MCF-7	breast:
3	chr17:17490848..17493692-chr17:17505385..17507951,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11078389	0.88[CEU][hapmap];0.83[MEX][hapmap]
rs11078390	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11654842	0.86[CEU][hapmap]
rs11867208	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11869492	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12453139	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12936201	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12948060	0.88[CEU][hapmap];0.88[MEX][hapmap]
rs1809206	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2124344	0.88[CEU][hapmap];0.87[MEX][hapmap]
rs2350631	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs4244596	0.88[CEU][hapmap];0.92[MEX][hapmap]
rs4244598	0.88[CEU][hapmap];0.92[MEX][hapmap]
rs4646340	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646341	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646350	0.88[CEU][hapmap];0.92[MEX][hapmap]
rs4646356	0.85[CEU][hapmap]
rs4646359	0.85[CEU][hapmap]
rs4646365	0.82[CEU][hapmap]
rs4925027	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs62066209	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6502609	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218582	0.82[ASN][1000 genomes]
rs729975	0.88[CEU][hapmap]
rs8082417	0.88[CEU][hapmap];0.92[MEX][hapmap]
rs897451	0.88[CEU][hapmap]
rs9890064	0.84[ASW][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap]
rs9895955	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7215833	SNORD49B	cis	parietal	SCAN
rs7215833	C17orf76	cis	cerebellum	SCAN
rs7215833	RAI1	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17496200-17508600	Weak transcription	Fetal Intestine Small	intestine
2	chr17:17496400-17508200	Weak transcription	Right Atrium	heart
3	chr17:17496400-17508600	Weak transcription	HSMMtube	muscle
4	chr17:17496600-17508600	Weak transcription	Fetal Stomach	stomach
5	chr17:17496600-17508800	Weak transcription	Osteobl	bone
6	chr17:17497000-17508200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:17506400-17507600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:17506400-17507600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:17506600-17507400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:17506600-17507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr17:17506600-17507600	Enhancers	Fetal Heart	heart
12	chr17:17506800-17507400	Enhancers	Thymus	Thymus
13	chr17:17506800-17507600	Enhancers	Fetal Thymus	thymus
14	chr17:17507000-17509800	Enhancers	K562	blood
15	chr17:17507000-17512600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:17507200-17507400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:17507200-17508800	Weak transcription	Fetal Lung	lung
18	chr17:17507200-17509400	Enhancers	HepG2	liver
19	chr17:17507200-17510200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr17:17507200-17512600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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