Variant report

Variant	rs7319280
Chromosome Location	chr13:37869755-37869756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17055260	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17055273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17055292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17055294	1.00[AMR][1000 genomes]
rs17055296	1.00[AMR][1000 genomes]
rs17055299	1.00[AMR][1000 genomes]
rs7320141	0.94[AFR][1000 genomes]
rs7325404	0.81[AFR][1000 genomes]
rs7327632	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7328470	0.83[AFR][1000 genomes]
rs7330462	1.00[AMR][1000 genomes]
rs7331711	0.81[AFR][1000 genomes]
rs7334043	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7337146	1.00[AMR][1000 genomes]
rs7985127	0.83[AFR][1000 genomes]
rs7986223	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7987182	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv471128	chr13:37838294-37880725	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37861400-37877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:37868600-37870000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:37868800-37869800	Enhancers	NHEK	skin
4	chr13:37868800-37871400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr13:37869000-37870000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:37869000-37870000	Enhancers	Osteobl	bone
7	chr13:37869200-37869800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:37869200-37870200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	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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