Variant report

Variant	rs557527029
Chromosome Location	chr12:124394526-124394527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv560499	chr12:124389150-124396816	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv560500	chr12:124393697-124396754	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv560501	chr12:124393697-124396878	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
2	chr12:124386000-124395800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:124390200-124397600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:124391600-124395000	Enhancers	Fetal Muscle Leg	muscle
5	chr12:124393000-124397200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:124393200-124398800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:124393400-124396800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:124393800-124395400	Enhancers	Brain Germinal Matrix	brain
9	chr12:124393800-124418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:124394000-124395000	Enhancers	Brain Angular Gyrus	brain
11	chr12:124394200-124394600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr12:124394200-124400200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:124394200-124418400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:124394400-124394600	Active TSS	Brain Hippocampus Middle	brain
15	chr12:124394400-124394600	Enhancers	Brain Substantia Nigra	brain
16	chr12:124394400-124394800	Enhancers	Fetal Muscle Trunk	muscle

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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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