Variant report

Variant	rs9545241
Chromosome Location	chr13:80439476-80439477
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12430995	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12876803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1335282	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1360812	0.81[ASN][1000 genomes]
rs1360814	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1889642	0.92[ASN][1000 genomes]
rs2329139	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4619276	0.91[ASN][1000 genomes]
rs9530980	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9530981	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545217	0.92[ASN][1000 genomes]
rs9545219	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9545224	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9545244	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9574501	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][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	nsv1043768	chr13:80398379-80447095	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1048990	chr13:80419496-80456454	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1044254	chr13:80419496-80457686	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80425400-80443200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80434400-80443400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:80435400-80443400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:80436200-80443400	Weak transcription	Stomach Mucosa	stomach
5	chr13:80438400-80439800	Enhancers	Fetal Thymus	thymus
6	chr13:80438400-80440200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr13:80438800-80440200	Weak transcription	Thymus	Thymus
8	chr13:80439200-80439600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:80439200-80443400	Weak transcription	Fetal Intestine Small	intestine
10	chr13:80439200-80443600	Weak transcription	Fetal Intestine Large	intestine

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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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