Variant report

Variant	rs4351147
Chromosome Location	chr5:124759402-124759403
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:7)

rs_ID	r²[population]
rs10065353	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10477664	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13180857	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4472260	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4836192	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6868820	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9686688	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[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	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr5:124750400-124759800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:124750400-124760400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:124751200-124760200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:124751800-124760400	Weak transcription	Fetal Kidney	kidney
5	chr5:124753000-124760000	Weak transcription	Brain Angular Gyrus	brain
6	chr5:124753600-124760000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:124756600-124760400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:124757200-124761000	Weak transcription	Fetal Brain Female	brain
9	chr5:124757800-124759800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:124757800-124760000	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:124758200-124759800	Weak transcription	Brain Germinal Matrix	brain
12	chr5:124758200-124760000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:124758400-124760000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:124758400-124760000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:124758400-124760200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:124759200-124760000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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