Variant report

Variant	rs9977001
Chromosome Location	chr21:17747212-17747213
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9981825	0.87[AMR][1000 genomes]
rs9982918	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17735600-17749600	Weak transcription	Psoas Muscle	Psoas
2	chr21:17735800-17749600	Weak transcription	Left Ventricle	heart
3	chr21:17735800-17767200	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:17738800-17747800	Weak transcription	Brain Anterior Caudate	brain
5	chr21:17741400-17749200	Weak transcription	Ovary	ovary
6	chr21:17742800-17748200	Weak transcription	Fetal Heart	heart
7	chr21:17742800-17749400	Weak transcription	Esophagus	oesophagus
8	chr21:17742800-17760800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:17743000-17748600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr21:17743200-17749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:17745200-17764000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:17745400-17758800	Weak transcription	Brain Substantia Nigra	brain
13	chr21:17746000-17753800	Weak transcription	Hela-S3	cervix
14	chr21:17746600-17749800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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