Variant report

Variant	rs7331323
Chromosome Location	chr13:80448638-80448639
allele	A/C
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:15)

rs_ID	r²[population]
rs11841161	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1335280	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2152227	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4885678	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55782753	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60183121	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6563141	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6563144	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7320994	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7327438	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7332904	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7337191	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7987352	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7994812	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9545243	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[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	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
2	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80444000-80448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:80445400-80448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:80447000-80449400	Enhancers	Fetal Thymus	thymus
4	chr13:80447400-80448800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:80448600-80448800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:80448600-80448800	Enhancers	Fetal Brain Male	brain
7	chr13:80448600-80449000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:80448600-80449000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:80448600-80449000	Enhancers	HSMMtube	muscle
10	chr13:80448600-80449200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:80448600-80449400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:80448600-80449400	Enhancers	Brain Substantia Nigra	brain
13	chr13:80448600-80449400	Enhancers	Thymus	Thymus
14	chr13:80448600-80449800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:80448600-80449800	Enhancers	NHEK	skin

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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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