Variant report

Variant	rs56299925
Chromosome Location	chr21:37683093-37683094
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1063308	1.00[ASN][1000 genomes]
rs17814122	1.00[ASN][1000 genomes]
rs1906487	1.00[ASN][1000 genomes]
rs61741099	1.00[ASN][1000 genomes]
rs73202277	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127277	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127711	1.00[ASN][1000 genomes]
rs8127746	1.00[ASN][1000 genomes]
rs8128974	1.00[ASN][1000 genomes]
rs8129103	1.00[ASN][1000 genomes]
rs8129295	0.82[EUR][1000 genomes];1.00[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	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3449475	chr21:37539524-37700336	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv510797	chr21:37592477-37687123	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv913734	chr21:37617630-37718587	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37679800-37683800	Enhancers	Primary B cells from peripheral blood	blood
2	chr21:37681800-37683400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr21:37682000-37683200	Enhancers	Fetal Thymus	thymus
4	chr21:37682000-37683800	Enhancers	Primary B cells from cord blood	blood
5	chr21:37682200-37683200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr21:37682400-37683200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr21:37682400-37683600	Enhancers	GM12878-XiMat	blood
8	chr21:37682800-37683200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr21:37682800-37683600	Enhancers	Fetal Lung	lung
10	chr21:37683000-37683200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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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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