Variant report

Variant	rs28730367
Chromosome Location	chr15:75396387-75396388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12148488	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12904227	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6495150	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6495151	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67168917	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28730367	SCAMP2	Cis_1M	lymphoblastoid	RTeQTL
rs28730367	SCAMP5	cis	Artery Tibial	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75382800-75396600	Weak transcription	Spleen	Spleen
2	chr15:75383200-75397200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:75390000-75397000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:75391200-75396800	Weak transcription	HepG2	liver
5	chr15:75391400-75396600	Weak transcription	Lung	lung
6	chr15:75394800-75397400	Weak transcription	Fetal Thymus	thymus
7	chr15:75394800-75397400	Enhancers	GM12878-XiMat	blood
8	chr15:75395400-75403400	Enhancers	Placenta	Placenta
9	chr15:75395600-75405800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:75395800-75397000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr15:75395800-75397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:75395800-75397200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr15:75396000-75398800	Enhancers	Primary B cells from peripheral blood	blood

Quick Search:

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

what's new

Quick links