Variant report

Variant	rs17326195
Chromosome Location	chr2:152951133-152951134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11683326	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11684002	0.88[CEU][hapmap];0.90[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11684622	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11686080	0.84[MEX][hapmap]
rs11686447	0.84[MEX][hapmap]
rs11695538	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13421383	0.92[MEX][hapmap]
rs1519714	0.84[MEX][hapmap]
rs17270346	0.84[MEX][hapmap]
rs17398246	0.89[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17398253	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17398399	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1806557	0.84[MEX][hapmap];0.81[TSI][hapmap]
rs1806702	0.85[CEU][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap]
rs2345644	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2345646	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2345897	0.85[EUR][1000 genomes]
rs4233657	0.85[EUR][1000 genomes]
rs4664073	0.92[MEX][hapmap]
rs4664090	0.91[TSI][hapmap]
rs4664558	0.91[TSI][hapmap]
rs56853020	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58761402	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66529470	0.85[EUR][1000 genomes]
rs66530032	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66782719	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67135983	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67157738	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6745311	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67874818	0.85[EUR][1000 genomes]
rs68008008	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs68036808	0.85[EUR][1000 genomes]
rs72857737	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72859833	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72859836	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72864740	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72864741	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72864754	0.86[EUR][1000 genomes]
rs73002815	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7597103	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17326195	CACNB4	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152935800-152953200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:152946800-152953200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:152948200-152953600	Weak transcription	Fetal Brain Female	brain
4	chr2:152950000-152951800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:152950000-152951800	Enhancers	Fetal Muscle Leg	muscle
6	chr2:152950400-152951600	Weak transcription	Fetal Brain Male	brain
7	chr2:152950400-152953800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:152950600-152951200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:152950800-152951200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:152950800-152951800	Enhancers	GM12878-XiMat	blood
11	chr2:152950800-152953800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:152951000-152951400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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