Variant report

Variant	rs138230449
Chromosome Location	chr8:125909530-125909531
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv971701	chr8:125909483-125925671	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125903000-125911000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125907000-125911200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:125907400-125909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:125907400-125909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:125907400-125910600	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:125907600-125909600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:125907600-125910600	Enhancers	Primary B cells from cord blood	blood
8	chr8:125908000-125909600	Enhancers	Primary T cells from cord blood	blood
9	chr8:125908200-125909600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:125909000-125909600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:125909000-125909800	Bivalent Enhancer	HepG2	liver
12	chr8:125909000-125914000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:125909200-125909600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:125909200-125909600	Enhancers	Liver	Liver
15	chr8:125909200-125909800	Enhancers	Esophagus	oesophagus
16	chr8:125909200-125910200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:125909200-125911000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:125909400-125910200	Enhancers	K562	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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