Variant report

Variant	rs537880187
Chromosome Location	chr12:83335026-83335027
allele	A/G
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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83305800-83336800	Weak transcription	Fetal Stomach	stomach
3	chr12:83307800-83336800	Weak transcription	Fetal Lung	lung
4	chr12:83324800-83336800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:83325000-83346400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:83325600-83348000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:83325800-83336800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:83326000-83340200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:83329000-83336400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:83331200-83336400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:83331400-83336800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:83331400-83348000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:83332400-83336400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:83334000-83335200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:83334400-83335200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:83334400-83335200	Enhancers	Fetal Heart	heart

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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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