Variant report

Variant	rs66529819
Chromosome Location	chr12:22322317-22322318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61323744	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs67115831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71448638	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264056	0.85[AFR][1000 genomes];0.98[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	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv20241	chr12:22322309-22326692	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22318200-22322400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:22321800-22322800	Enhancers	Primary T cells from cord blood	blood
3	chr12:22322000-22322400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:22322200-22322600	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:22322200-22322600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:22322200-22322600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:22322200-22322800	Enhancers	Fetal Thymus	thymus

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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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