Variant report

Variant	rs111939514
Chromosome Location	chr2:31299091-31299092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv961714	chr2:31298724-31305343	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
5	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
6	chr2:31294000-31301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:31294400-31301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:31297200-31301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:31297600-31299400	Enhancers	Fetal Stomach	stomach
12	chr2:31297800-31299400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:31298000-31299200	Enhancers	Fetal Brain Female	brain
14	chr2:31298200-31299200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:31298200-31299200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:31298400-31299400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:31298400-31299400	Enhancers	NHEK	skin
18	chr2:31298400-31299800	Enhancers	HMEC	breast
19	chr2:31298600-31299400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:31298800-31299200	Enhancers	Lung	lung
21	chr2:31298800-31300600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:31298800-31301000	Weak transcription	Fetal Brain Male	brain
23	chr2:31299000-31299200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:31299000-31299800	Weak transcription	Esophagus	oesophagus
25	chr2:31299000-31299800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:31299000-31300600	Weak transcription	Brain Germinal Matrix	brain
27	chr2:31299000-31301600	Weak transcription	NHDF-Ad	bronchial

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