Variant report

Variant	rs590116
Chromosome Location	chr2:31512565-31512566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11683836	0.88[YRI][hapmap]

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	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 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	chr2:31504600-31512800	Enhancers	Placenta	Placenta
2	chr2:31509200-31522000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:31510800-31516200	Weak transcription	Right Ventricle	heart
4	chr2:31510800-31516600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:31511000-31516800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:31511000-31517000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:31511200-31519000	Weak transcription	NH-A	brain
8	chr2:31511200-31523200	Weak transcription	HMEC	breast
9	chr2:31511400-31516000	Weak transcription	Esophagus	oesophagus
10	chr2:31511400-31516400	Weak transcription	Aorta	Aorta
11	chr2:31511400-31519200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:31511600-31512800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:31511600-31516200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:31511600-31516800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:31511600-31517200	Weak transcription	Fetal Heart	heart
16	chr2:31511600-31518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:31511600-31519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:31512200-31512800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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