Variant report

Variant	rs12520547
Chromosome Location	chr5:124271497-124271498
allele	A/C
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]
rs1026009	0.82[EUR][1000 genomes]
rs12514161	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12517390	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2028855	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2408225	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35649581	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836129	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836130	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62372816	0.87[ASN][1000 genomes]
rs6876107	0.84[ASN][1000 genomes]
rs6876737	0.86[ASN][1000 genomes]
rs6886725	0.86[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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124269000-124271600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:124269000-124271600	Weak transcription	HMEC	breast
3	chr5:124269200-124271600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:124269200-124271600	Weak transcription	NHEK	skin
5	chr5:124269800-124272600	Enhancers	Dnd41	blood
6	chr5:124270000-124272200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:124270400-124272600	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:124270400-124276000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:124270600-124271800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:124270800-124271800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:124270800-124272000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:124270800-124272200	Enhancers	NH-A	brain
13	chr5:124271000-124272000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:124271000-124272000	Enhancers	K562	blood
15	chr5:124271000-124275800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:124271200-124271600	Enhancers	GM12878-XiMat	blood
17	chr5:124271400-124271800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:124271400-124272000	Enhancers	HSMM	muscle
19	chr5:124271400-124272200	Enhancers	H1 Derived Mesenchymal Stem 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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