Variant report

Variant	rs34530749
Chromosome Location	chr18:29274349-29274350
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	chr18:29259001..29261313-chr18:29272206..29274958,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10048377	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10775449	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11081706	0.85[YRI][hapmap]
rs11081707	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11081708	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11660271	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11664177	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12327203	0.92[CEU][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12605321	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12964693	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12970031	0.85[AFR][1000 genomes]
rs1449082	0.83[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1551006	0.81[GIH][hapmap];1.00[YRI][hapmap]
rs1614197	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17661533	0.91[LWK][hapmap];1.00[YRI][hapmap]
rs1979105	0.81[JPT][hapmap]
rs4799589	1.00[YRI][hapmap]
rs718780	1.00[CEU][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8098191	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs968325	0.96[CEU][hapmap];0.86[GIH][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34530749	DSC1	cis	parietal	SCAN
rs34530749	CDH2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29267200-29282600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:29269200-29275400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:29274000-29274600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:29274000-29275400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:29274000-29275600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:29274200-29274600	Enhancers	K562	blood
7	chr18:29274200-29274800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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