Variant report

Variant	rs556929990
Chromosome Location	chr2:48534546-48534547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:48528000-48539200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:48530200-48540200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:48532200-48535000	Enhancers	HepG2	liver
5	chr2:48532800-48534600	Enhancers	HSMMtube	muscle
6	chr2:48533000-48534600	Enhancers	Adipose Nuclei	Adipose
7	chr2:48533000-48534800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:48533000-48539800	Weak transcription	Primary B cells from cord blood	blood
9	chr2:48533200-48534800	Enhancers	Placenta	Placenta
10	chr2:48533600-48534800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:48533800-48534600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:48533800-48534600	Enhancers	Hela-S3	cervix
13	chr2:48533800-48534800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:48533800-48534800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:48534000-48534600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:48534200-48534600	Enhancers	NHDF-Ad	bronchial
17	chr2:48534400-48534800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:48534400-48538800	Weak transcription	NHEK	skin
19	chr2:48534400-48540200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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