Variant report

Variant	rs2114050
Chromosome Location	chr8:68534788-68534789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10087399	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10100275	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100583	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957393	0.90[CEU][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11785219	0.82[ASN][1000 genomes]
rs1351515	0.81[CEU][hapmap]
rs2162146	0.91[CEU][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2380436	0.91[CEU][hapmap];0.92[JPT][hapmap]
rs379085	0.83[CEU][hapmap]
rs423321	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs6472324	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6472325	0.83[CEU][hapmap]
rs6472326	0.83[CEU][hapmap];0.83[MEX][hapmap]
rs6472327	0.86[CEU][hapmap]
rs6998443	0.87[CEU][hapmap];0.94[MEX][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7813074	0.85[CEU][hapmap]
rs7823371	0.83[CEU][hapmap];0.88[MEX][hapmap]
rs7841258	0.89[ASW][hapmap];0.95[CEU][hapmap];0.82[LWK][hapmap];0.81[TSI][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7842038	0.86[CEU][hapmap]
rs900896	0.91[CEU][hapmap];0.89[MEX][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9643399	0.82[ASN][1000 genomes]
rs9643584	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1032986	chr8:68468044-68789883	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv530518	chr8:68521420-68973114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2114050	DNAJC5B	cis	parietal	SCAN
rs2114050	MTFR1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68516200-68539400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:68532800-68539200	Weak transcription	Fetal Brain Female	brain

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