Variant report

Variant	rs7299448
Chromosome Location	chr12:106341485-106341486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10507207	0.81[AFR][1000 genomes]
rs10861534	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11833575	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12425155	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12816472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1362981	0.81[AFR][1000 genomes]
rs34988533	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35160905	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35168797	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61272568	0.86[AFR][1000 genomes]
rs61942475	0.84[AFR][1000 genomes]
rs6539237	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7314334	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7973846	0.81[AFR][1000 genomes]
rs7976523	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106336600-106347400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:106337800-106342400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:106339000-106342000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:106339000-106347600	Weak transcription	NHEK	skin
5	chr12:106339200-106343000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:106339200-106348600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:106339200-106348600	Weak transcription	HMEC	breast
8	chr12:106340400-106342800	Enhancers	Right Atrium	heart
9	chr12:106340600-106341600	Weak transcription	Psoas Muscle	Psoas
10	chr12:106340600-106355800	Weak transcription	Esophagus	oesophagus
11	chr12:106341000-106341600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:106341200-106342000	Weak transcription	HSMMtube	muscle
13	chr12:106341400-106341600	Enhancers	Right Ventricle	heart
14	chr12:106341400-106342600	Weak transcription	Aorta	Aorta
15	chr12:106341400-106344800	Weak transcription	Fetal Heart	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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