Variant report

Variant	rs240470
Chromosome Location	chr21:17760486-17760487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12482415	0.80[ASN][1000 genomes]
rs1375627	0.84[ASN][1000 genomes]
rs1449519	0.92[ASN][1000 genomes]
rs1449520	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1449521	0.92[ASN][1000 genomes]
rs1449524	0.83[CEU][hapmap];0.92[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2044733	0.84[CEU][hapmap];0.92[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2218735	0.83[CEU][hapmap];0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs2823761	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2823763	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2823764	0.94[ASN][1000 genomes]
rs2823766	0.84[ASN][1000 genomes]
rs2823767	0.84[CEU][hapmap];0.93[CHB][hapmap];0.84[ASN][1000 genomes]
rs2823768	0.83[CEU][hapmap];0.92[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823776	0.93[CHB][hapmap];0.81[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17735800-17767200	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:17742800-17760800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:17745200-17764000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr21:17751200-17760600	Weak transcription	Ovary	ovary
5	chr21:17751600-17760800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr21:17752800-17763200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:17759200-17760800	Weak transcription	Fetal Heart	heart
8	chr21:17759400-17762000	Weak transcription	H1 BMP4 Derived Mesendoderm 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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