Variant report

Variant	rs8126961
Chromosome Location	chr21:17833533-17833534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12483106	1.00[EUR][1000 genomes]
rs2000626	0.89[CHB][hapmap]
rs2823823	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823824	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823829	0.98[ASN][1000 genomes]
rs2823848	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2823850	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2823851	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2823863	1.00[JPT][hapmap]
rs2823881	0.86[CHB][hapmap]
rs2823892	0.86[CHB][hapmap]
rs58611293	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8131711	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131829	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9305769	1.00[JPT][hapmap]
rs9975284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9976995	1.00[EUR][1000 genomes]
rs9982229	1.00[JPT][hapmap]
rs9984951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17828800-17833600	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:17828800-17834600	Weak transcription	Left Ventricle	heart
3	chr21:17828800-17835000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:17829000-17843600	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:17829600-17835000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:17829600-17835600	Weak transcription	Fetal Brain Female	brain
7	chr21:17830200-17835000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr21:17830200-17835200	Weak transcription	Brain Anterior Caudate	brain
9	chr21:17830200-17837200	Weak transcription	Ovary	ovary
10	chr21:17830200-17837600	Weak transcription	Right Ventricle	heart
11	chr21:17830200-17842200	Weak transcription	Psoas Muscle	Psoas
12	chr21:17830400-17845600	Weak transcription	Right Atrium	heart
13	chr21:17832000-17835400	Weak transcription	Hela-S3	cervix
14	chr21:17833400-17833600	Enhancers	Esophagus	oesophagus
15	chr21:17833400-17833600	Enhancers	Fetal Heart	heart

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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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