Variant report

Variant	rs447480
Chromosome Location	chr21:41221971-41221972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1018352	0.84[CEU][hapmap]
rs1571712	0.84[CEU][hapmap]
rs2837206	0.85[CEU][hapmap]
rs2837208	0.84[CEU][hapmap]
rs2837214	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2837215	0.84[CEU][hapmap]
rs2837248	0.99[ASN][1000 genomes]
rs2837250	0.99[ASN][1000 genomes]
rs2837255	0.99[ASN][1000 genomes]
rs2898387	0.92[ASN][1000 genomes]
rs461583	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs4818092	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs4818093	0.83[CHB][hapmap]
rs4818094	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs4818095	0.82[EUR][1000 genomes]
rs7277009	0.92[ASN][1000 genomes]
rs9975321	0.92[ASN][1000 genomes]
rs9982911	0.92[ASN][1000 genomes]
rs9984051	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr21:41213400-41222800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr21:41213600-41223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:41218400-41222800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:41220200-41223400	Weak transcription	Pancreas	Pancrea
5	chr21:41220200-41223600	Weak transcription	Gastric	stomach
6	chr21:41221200-41224000	Enhancers	Fetal Muscle Leg	muscle
7	chr21:41221600-41222000	Enhancers	Right Ventricle	heart
8	chr21:41221800-41224800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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Input of quick search could be:

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

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