Variant report

Variant	rs17132522
Chromosome Location	chr7:48678849-48678850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73694698	0.96[AFR][1000 genomes]
rs73696907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830992	chr7:48497408-48686442	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv606894	chr7:48663637-48718598	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48672400-48683000	Weak transcription	Fetal Lung	lung
2	chr7:48672600-48679600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:48672600-48688800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:48676200-48679000	Weak transcription	Right Ventricle	heart
5	chr7:48676800-48683200	Weak transcription	Right Atrium	heart
6	chr7:48677200-48679200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:48677600-48682600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:48677800-48682400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:48678000-48680000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:48678000-48681000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:48678000-48681200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:48678200-48679000	Flanking Active TSS	Fetal Heart	heart
13	chr7:48678200-48681000	Weak transcription	Brain Substantia Nigra	brain
14	chr7:48678400-48681200	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:48678800-48679200	Enhancers	Left Ventricle	heart
16	chr7:48678800-48681200	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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