Variant report

Variant	rs12524499
Chromosome Location	chr6:45629766-45629767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10948245	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10948246	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10948248	0.89[EUR][1000 genomes]
rs1388243	0.93[EUR][1000 genomes]
rs16873629	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28579170	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3925761	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4714863	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73735437	0.85[EUR][1000 genomes]
rs73735442	0.85[EUR][1000 genomes]
rs7752609	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7769966	0.89[ASN][1000 genomes]
rs9349323	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9357490	0.87[EUR][1000 genomes]
rs9369568	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369569	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9381392	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr6:45626200-45632600	Weak transcription	HSMMtube	muscle
2	chr6:45626600-45631400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:45627200-45631000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:45627200-45631200	Weak transcription	NHLF	lung
5	chr6:45627400-45631200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:45627400-45631200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:45627400-45631400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:45629000-45630400	Enhancers	HSMM	muscle
9	chr6:45629000-45630400	Enhancers	NHDF-Ad	bronchial
10	chr6:45629000-45630600	Enhancers	NH-A	brain
11	chr6:45629000-45631000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:45629000-45631400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:45629200-45630600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:45629400-45631400	Bivalent Enhancer	Fetal Thymus	thymus
15	chr6:45629600-45629800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:45629600-45633200	Weak transcription	Dnd41	blood

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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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