Variant report

Variant	rs12804277
Chromosome Location	chr11:16606572-16606573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10734249	0.86[EUR][1000 genomes]
rs10741708	0.85[EUR][1000 genomes]
rs12791781	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12793714	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12794768	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12799800	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12799969	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12800576	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1501451	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1846936	0.91[EUR][1000 genomes]
rs1967192	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1995343	0.91[EUR][1000 genomes]
rs2221243	0.81[EUR][1000 genomes]
rs34097789	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34168776	0.81[ASN][1000 genomes]
rs34241215	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34391086	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34793179	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34812104	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35199438	0.91[ASN][1000 genomes]
rs35359042	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35384953	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35925952	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36141792	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3802963	0.91[EUR][1000 genomes]
rs3921675	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4756860	0.84[EUR][1000 genomes]
rs4756862	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4757428	0.81[EUR][1000 genomes]
rs6486310	0.89[EUR][1000 genomes]
rs6486312	0.93[EUR][1000 genomes]
rs66601782	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66670205	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7110136	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7117140	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7125262	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7128484	0.94[EUR][1000 genomes]
rs7939889	0.86[EUR][1000 genomes]
rs7944906	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16595200-16608200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:16595400-16609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:16598600-16609200	Weak transcription	Left Ventricle	heart
4	chr11:16603200-16609400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:16603400-16609200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:16605600-16606800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr11:16606000-16606600	Weak transcription	Fetal Heart	heart
8	chr11:16606000-16606600	Enhancers	Psoas Muscle	Psoas
9	chr11:16606200-16606600	Enhancers	Right Ventricle	heart
10	chr11:16606400-16607400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:16606400-16608600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:16606400-16609400	Weak transcription	Right Atrium	heart

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