Variant report

Variant	rs186528130
Chromosome Location	chr12:44680430-44680431
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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv686	chr12:44671240-44696910	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	n/a
4	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 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	chr12:44672800-44680600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:44676600-44697800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:44678000-44680600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44679000-44680600	Enhancers	HUVEC	blood vessel
5	chr12:44679000-44680800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:44679200-44680800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:44679200-44682000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:44679400-44681400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:44679400-44681600	Enhancers	HSMM	muscle
10	chr12:44679600-44680600	Weak transcription	Fetal Brain Female	brain
11	chr12:44679600-44681800	Enhancers	NHEK	skin
12	chr12:44679800-44680600	Weak transcription	NHDF-Ad	bronchial
13	chr12:44680000-44680800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:44680000-44681200	Enhancers	Fetal Brain Male	brain
15	chr12:44680200-44681600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:44680200-44682000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:44680400-44682000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:44680400-44682000	Enhancers	HMEC	breast

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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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