Variant report

Variant	rs6068904
Chromosome Location	chr20:53172943-53172944
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17326260	0.80[AMR][1000 genomes]
rs55638072	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59634021	0.88[EUR][1000 genomes]
rs6014046	0.80[AMR][1000 genomes]
rs6014054	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6014059	0.90[EUR][1000 genomes]
rs6023346	0.80[AMR][1000 genomes]
rs6023364	0.85[EUR][1000 genomes]
rs62214422	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62214423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62214426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66842421	0.80[AMR][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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53166400-53177400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:53166800-53173600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr20:53166800-53176800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:53167800-53174000	Weak transcription	Osteobl	bone
5	chr20:53167800-53189200	Weak transcription	Aorta	Aorta
6	chr20:53171200-53187800	Weak transcription	Fetal Muscle Leg	muscle
7	chr20:53171400-53185800	Weak transcription	Fetal Brain Female	brain
8	chr20:53171600-53186800	Weak transcription	Brain Anterior Caudate	brain
9	chr20:53171800-53180200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr20:53172600-53174200	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr20:53172600-53181000	Weak transcription	Brain Germinal Matrix	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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