Variant report

Variant	rs483406
Chromosome Location	chr12:121024176-121024177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs488313	0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567696	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs595921	1.00[AMR][1000 genomes]
rs614053	0.93[AFR][1000 genomes]
rs630654	0.93[AFR][1000 genomes]
rs634527	1.00[AMR][1000 genomes]
rs787949	0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv973944	chr12:121017088-121027122	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121019600-121027200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:121022800-121026200	Weak transcription	Right Ventricle	heart
3	chr12:121022800-121026600	Weak transcription	Left Ventricle	heart
4	chr12:121022800-121026800	Weak transcription	Psoas Muscle	Psoas
5	chr12:121022800-121027000	Weak transcription	Brain Anterior Caudate	brain
6	chr12:121022800-121028800	Weak transcription	Esophagus	oesophagus
7	chr12:121023000-121026000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:121023000-121026200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:121023000-121026600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:121023000-121026600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:121023000-121027000	Weak transcription	Colonic Mucosa	Colon
12	chr12:121023000-121027400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:121023400-121024400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr12:121023800-121024400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:121024000-121024200	Bivalent Enhancer	Brain Germinal Matrix	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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