Variant report

Variant	rs36148580
Chromosome Location	chr5:124469535-124469536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11746916	0.90[EUR][1000 genomes]
rs13177504	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1550362	0.90[EUR][1000 genomes]
rs1550363	0.90[EUR][1000 genomes]
rs34190797	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34735920	0.81[EUR][1000 genomes]
rs35456753	0.81[EUR][1000 genomes]
rs35655256	0.81[EUR][1000 genomes]
rs35967749	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71576807	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs71576809	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71576810	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][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	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv599658	chr5:124459547-124513012	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124456200-124470000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:124456200-124470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:124465400-124470000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:124465400-124471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:124465600-124470000	Weak transcription	HUVEC	blood vessel
6	chr5:124465600-124470000	Weak transcription	NHDF-Ad	bronchial
7	chr5:124468200-124472000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:124468800-124470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:124468800-124470000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:124469200-124469800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:124469400-124472400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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