Variant report

Variant	rs543748478
Chromosome Location	chr1:112887199-112887200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv508526	chr1:112839396-112915215	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872156	chr1:112886545-112927912	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112880000-112889600	Weak transcription	Right Atrium	heart
2	chr1:112885600-112887600	Weak transcription	Adipose Nuclei	Adipose
3	chr1:112886000-112889400	Weak transcription	Fetal Stomach	stomach
4	chr1:112886400-112888200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:112886600-112887200	Weak transcription	Thymus	Thymus
6	chr1:112886600-112887400	Enhancers	Primary T cells from cord blood	blood
7	chr1:112886600-112887800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr1:112886600-112888000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:112886600-112888200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:112886600-112888400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:112886600-112888400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:112886600-112888800	Enhancers	Dnd41	blood
13	chr1:112886800-112889200	Weak transcription	Esophagus	oesophagus
14	chr1:112886800-112901400	Weak transcription	Pancreas	Pancrea
15	chr1:112887000-112887400	Weak transcription	Fetal Thymus	thymus
16	chr1:112887000-112888000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:112887000-112888200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:112887000-112888400	Enhancers	Primary T killer 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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