Variant report

Variant	rs547923877
Chromosome Location	chr12:22269637-22269638
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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2455107	chr12:22269427-22270700	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22256000-22271000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:22268600-22272000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:22269200-22270200	Enhancers	Fetal Heart	heart
4	chr12:22269200-22270400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:22269200-22271000	Weak transcription	Brain Anterior Caudate	brain
6	chr12:22269200-22272400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:22269400-22269800	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:22269400-22271200	Weak transcription	Fetal Brain Female	brain
9	chr12:22269600-22271000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:22269600-22271000	Weak transcription	Fetal Brain Male	brain

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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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