Variant report

Variant	rs2984612
Chromosome Location	chr1:168932653-168932654
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168912335..168914711-chr1:168931279..168934188,3	MCF-7	breast:
2	chr1:168932268..168934121-chr1:168953763..168956634,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10919009	1.00[ASN][1000 genomes]
rs12075363	1.00[ASN][1000 genomes]
rs12084554	1.00[CHD][hapmap]
rs1322495	1.00[ASN][1000 genomes]
rs1322502	1.00[ASN][1000 genomes]
rs1322503	1.00[ASN][1000 genomes]
rs1358949	1.00[ASN][1000 genomes]
rs1407479	1.00[ASN][1000 genomes]
rs1570332	1.00[ASN][1000 genomes]
rs1570333	1.00[ASN][1000 genomes]
rs1590286	1.00[ASN][1000 genomes]
rs1960548	1.00[CEU][hapmap]
rs200577	1.00[ASN][1000 genomes]
rs2065130	1.00[ASN][1000 genomes]
rs2065131	1.00[ASN][1000 genomes]
rs2146195	1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap]
rs2146199	1.00[ASN][1000 genomes]
rs2146202	1.00[ASN][1000 genomes]
rs2146203	1.00[ASN][1000 genomes]
rs2419389	1.00[ASN][1000 genomes]
rs2419396	1.00[ASN][1000 genomes]
rs2419685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900886	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984604	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2984605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007391	1.00[ASN][1000 genomes]
rs3007398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656168	1.00[ASN][1000 genomes]
rs61801631	1.00[ASN][1000 genomes]
rs61801632	1.00[ASN][1000 genomes]
rs61801637	1.00[ASN][1000 genomes]
rs61801655	1.00[ASN][1000 genomes]
rs61801656	1.00[ASN][1000 genomes]
rs6427154	1.00[ASN][1000 genomes]
rs6427166	1.00[CEU][hapmap]
rs6427167	1.00[CEU][hapmap]
rs6670610	1.00[ASN][1000 genomes]
rs6681955	1.00[ASN][1000 genomes]
rs6686910	1.00[ASN][1000 genomes]
rs704837	1.00[ASN][1000 genomes]
rs7513128	1.00[ASN][1000 genomes]
rs7514682	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7526462	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7541615	1.00[ASN][1000 genomes]
rs857632	1.00[ASN][1000 genomes]
rs857634	1.00[ASN][1000 genomes]
rs857636	1.00[ASN][1000 genomes]
rs857638	1.00[ASN][1000 genomes]
rs857639	1.00[ASN][1000 genomes]
rs857640	1.00[ASN][1000 genomes]
rs857642	1.00[ASN][1000 genomes]
rs857644	1.00[ASN][1000 genomes]
rs911892	1.00[ASN][1000 genomes]
rs968047	1.00[ASN][1000 genomes]
rs971411	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2984612	TIPRL	cis	parietal	SCAN
rs2984612	POGK	cis	parietal	SCAN
rs2984612	SLC19A2	cis	parietal	SCAN
rs2984612	ALG8	trans	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168930400-168932800	Weak transcription	Brain Anterior Caudate	brain
2	chr1:168930400-168940000	Weak transcription	Right Ventricle	heart
3	chr1:168931000-168933000	Weak transcription	Brain Germinal Matrix	brain
4	chr1:168931000-168939800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:168932600-168932800	Enhancers	Brain Hippocampus Middle	brain
6	chr1:168932600-168933000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:168932600-168933000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:168932600-168933000	Enhancers	Brain Inferior Temporal Lobe	brain

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