Variant report

Variant	rs2984608
Chromosome Location	chr1:168929054-168929055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
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]
rs2984612	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
rs2984608	TIPRL	cis	parietal	SCAN
rs2984608	POGK	cis	parietal	SCAN
rs2984608	SLC19A2	cis	parietal	SCAN
rs2984608	ALG8	trans	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168926800-168931000	Enhancers	Brain Germinal Matrix	brain
2	chr1:168927600-168930000	Enhancers	Brain Hippocampus Middle	brain
3	chr1:168928000-168930000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:168928200-168931000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:168928400-168932600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:168928600-168930000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:168928600-168930000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:168928800-168929600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:168928800-168930200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr1:168929000-168929200	Enhancers	Small Intestine	intestine
11	chr1:168929000-168930000	Weak transcription	Left Ventricle	heart
12	chr1:168929000-168930200	Weak transcription	Ovary	ovary
13	chr1:168929000-168930600	Enhancers	Rectal Mucosa Donor 31	rectum

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