Variant report

Variant	rs72863591
Chromosome Location	chr2:30547473-30547474
allele	A/G
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]
rs2202889	1.00[AMR][1000 genomes]
rs72863581	1.00[AMR][1000 genomes]
rs72863582	1.00[AMR][1000 genomes]
rs72863585	1.00[AMR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv2663	chr2:30522750-30567544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30534400-30548200	Weak transcription	Fetal Heart	heart
2	chr2:30539200-30548600	Weak transcription	Thymus	Thymus
3	chr2:30539800-30548600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:30540200-30548600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:30546200-30549800	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:30546200-30554800	Weak transcription	Spleen	Spleen
7	chr2:30546400-30548000	Enhancers	GM12878-XiMat	blood
8	chr2:30546400-30549000	Enhancers	Fetal Thymus	thymus
9	chr2:30546400-30549400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:30546600-30549800	Enhancers	Primary B cells from cord blood	blood
11	chr2:30546800-30549000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:30547200-30547600	Enhancers	Primary T cells from cord blood	blood
13	chr2:30547400-30547600	Enhancers	Esophagus	oesophagus
14	chr2:30547400-30548200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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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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