Variant report

Variant	rs1918583
Chromosome Location	chr7:48678081-48678082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10268266	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11977294	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1358409	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1527842	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3915483	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4551288	0.81[JPT][hapmap]
rs4917024	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55652646	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6955686	0.88[CEU][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7809663	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9649742	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][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:18 , 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	chr7:48674800-48678200	Enhancers	Fetal Heart	heart
5	chr7:48675600-48678200	Enhancers	HMEC	breast
6	chr7:48676000-48678200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:48676200-48679000	Weak transcription	Right Ventricle	heart
8	chr7:48676800-48683200	Weak transcription	Right Atrium	heart
9	chr7:48677200-48679200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:48677400-48678400	Enhancers	Brain Hippocampus Middle	brain
11	chr7:48677600-48678200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:48677600-48678200	Enhancers	Brain Substantia Nigra	brain
13	chr7:48677600-48682600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:48677800-48678800	Weak transcription	Left Ventricle	heart
15	chr7:48677800-48682400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:48678000-48680000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:48678000-48681000	Weak transcription	Brain Angular Gyrus	brain
18	chr7:48678000-48681200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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