Variant report

Variant	rs28408880
Chromosome Location	chr8:42591305-42591306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13263434	0.91[ASN][1000 genomes]
rs13270610	0.82[ASN][1000 genomes]
rs3927066	0.88[ASN][1000 genomes]
rs4954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034121	chr8:42549810-42618713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42586000-42591800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:42588400-42592000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:42588600-42594800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:42588600-42595400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:42588800-42591400	Weak transcription	Primary T cells from cord blood	blood
6	chr8:42588800-42591800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:42588800-42591800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:42589000-42591800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:42589200-42591800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:42589200-42592000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:42590800-42593000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:42590800-42593200	Enhancers	Pancreas	Pancrea
13	chr8:42591200-42592000	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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