Variant report

Variant	rs2299771
Chromosome Location	chr21:41280360-41280361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2244297	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2244424	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299767	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299769	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299770	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299777	0.91[ASN][1000 genomes]
rs2299778	0.89[ASN][1000 genomes]
rs2299779	0.91[ASN][1000 genomes]
rs2299781	0.91[ASN][1000 genomes]
rs2837287	0.88[ASN][1000 genomes]
rs3819593	0.88[ASN][1000 genomes]
rs3819595	0.88[ASN][1000 genomes]
rs3819596	0.88[ASN][1000 genomes]
rs3819597	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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	chr21:41274400-41280400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:41275200-41283200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:41276800-41281200	Weak transcription	Brain Anterior Caudate	brain
4	chr21:41280200-41280600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:41280200-41280800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:41280200-41280800	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr21:41280200-41281000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr21:41280200-41281600	Enhancers	Primary B cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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