Variant report

Variant	rs3778811
Chromosome Location	chr7:137446778-137446779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137439231..137441193-chr7:137444699..137446812,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10261368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277480	0.92[CEU][hapmap]
rs13221354	0.96[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235694	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963844	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2009990	0.92[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2113426	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2113427	0.84[CEU][hapmap]
rs2351856	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3778810	0.92[CEU][hapmap]
rs3778812	0.83[ASW][hapmap];0.92[CEU][hapmap];0.83[GIH][hapmap];0.80[EUR][1000 genomes]
rs3778813	0.88[ASW][hapmap];0.92[CEU][hapmap]
rs3778815	0.88[ASW][hapmap];0.92[CEU][hapmap]
rs3800654	1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800659	0.88[CEU][hapmap]
rs3800660	0.88[CEU][hapmap]
rs3800661	0.86[EUR][1000 genomes]
rs4732267	0.84[CEU][hapmap]
rs57370627	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6467717	0.88[CEU][hapmap]
rs73152535	0.98[EUR][1000 genomes]
rs7797147	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3778811	AGBL3	cis	cerebellum	SCAN
rs3778811	LRGUK	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137440600-137453200	Weak transcription	Aorta	Aorta
2	chr7:137441000-137464400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:137442200-137453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:137442400-137451000	Weak transcription	HSMMtube	muscle
5	chr7:137442400-137453000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:137442400-137453200	Weak transcription	NH-A	brain
7	chr7:137442600-137456200	Weak transcription	HSMM	muscle
8	chr7:137445200-137447200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:137445400-137447600	Strong transcription	Osteobl	bone
10	chr7:137445600-137447400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:137446200-137450400	Weak transcription	Muscle Satellite Cultured Cells	--

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