Variant report

Variant	rs553127979
Chromosome Location	chr2:48651056-48651057
allele	C/T
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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv524919	chr2:48649738-48658779	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48643600-48651200	Weak transcription	Psoas Muscle	Psoas
2	chr2:48647800-48651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:48648000-48651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:48648000-48655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:48648200-48651600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:48648400-48651600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:48648400-48651600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:48648400-48652400	Weak transcription	K562	blood
9	chr2:48650000-48651200	Enhancers	NHDF-Ad	bronchial
10	chr2:48650200-48651200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:48650400-48652800	Enhancers	Brain Hippocampus Middle	brain
12	chr2:48650600-48651600	Weak transcription	HMEC	breast
13	chr2:48651000-48653400	Enhancers	Foreskin Melanocyte Primary Cells skin03	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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