Variant report

Variant	rs2204833
Chromosome Location	chr7:107283069-107283070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1015411	1.00[GIH][hapmap]
rs10258385	1.00[GIH][hapmap]
rs10264412	0.84[EUR][1000 genomes]
rs10267907	1.00[GIH][hapmap]
rs10273733	1.00[GIH][hapmap]
rs10276604	1.00[GIH][hapmap]
rs10281535	1.00[GIH][hapmap]
rs11535285	0.95[CEU][hapmap];0.94[GIH][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs11977187	1.00[GIH][hapmap]
rs17154091	0.95[CEU][hapmap]
rs2023685	0.94[GIH][hapmap]
rs2057837	1.00[GIH][hapmap]
rs2066735	1.00[GIH][hapmap]
rs2107713	1.00[GIH][hapmap]
rs2178497	0.95[GIH][hapmap]
rs2222845	0.97[EUR][1000 genomes]
rs2237671	0.82[EUR][1000 genomes]
rs2237677	1.00[GIH][hapmap]
rs2237678	0.95[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs2248465	0.95[CEU][hapmap]
rs2253146	1.00[GIH][hapmap]
rs2253833	0.95[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs2293658	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap]
rs2395907	1.00[GIH][hapmap]
rs2520241	1.00[GIH][hapmap]
rs2520242	1.00[GIH][hapmap]
rs2520249	1.00[GIH][hapmap]
rs2520250	0.82[EUR][1000 genomes]
rs2520256	0.83[EUR][1000 genomes]
rs2520269	1.00[GIH][hapmap]
rs2701678	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2701679	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2701682	0.93[EUR][1000 genomes]
rs2701685	0.90[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs2712195	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs2712196	0.82[EUR][1000 genomes]
rs2712201	1.00[GIH][hapmap]
rs2712224	0.84[EUR][1000 genomes]
rs2807	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs2808	1.00[GIH][hapmap]
rs2894475	1.00[GIH][hapmap]
rs34325395	0.80[EUR][1000 genomes]
rs3779495	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3801944	1.00[GIH][hapmap]
rs3801948	1.00[GIH][hapmap]
rs4727680	1.00[GIH][hapmap]
rs4727681	0.81[CEU][hapmap]
rs4727684	1.00[GIH][hapmap]
rs58052742	0.87[EUR][1000 genomes]
rs62483725	0.85[EUR][1000 genomes]
rs6976607	0.94[GIH][hapmap]
rs7793613	1.00[GIH][hapmap]
rs7803102	1.00[GIH][hapmap]
rs986994	1.00[GIH][hapmap]

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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2204833	BCAP29	Cis_1M	lymphoblastoid	RTeQTL
rs2204833	PRKAR2B	cis	cerebellum	SCAN
rs2204833	LAP3	trans	cerebellum	SCAN
rs2204833	COG5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107270200-107284600	Weak transcription	Adipose Nuclei	Adipose
2	chr7:107271000-107283200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:107280200-107284200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:107280200-107284400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:107280200-107284800	Weak transcription	Primary B cells from cord blood	blood
6	chr7:107280600-107284400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:107281600-107285200	Enhancers	Fetal Brain Male	brain
8	chr7:107282000-107286600	Enhancers	Fetal Brain Female	brain
9	chr7:107283000-107283200	Bivalent Enhancer	Fetal Lung	lung
10	chr7:107283000-107283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:107283000-107285200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:107283000-107285200	Enhancers	NHDF-Ad	bronchial

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