Variant report

Variant	rs28758813
Chromosome Location	chr7:13083138-13083139
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10227653	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10238713	0.94[ASN][1000 genomes]
rs13245067	0.82[ASN][1000 genomes]
rs17166650	0.85[ASN][1000 genomes]
rs17166661	0.87[ASN][1000 genomes]
rs17630382	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28460172	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6962531	0.87[ASN][1000 genomes]
rs73065466	0.87[ASN][1000 genomes]
rs7803588	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1019173	chr7:13063854-13585360	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538737	chr7:13063854-13585360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28758813	AC011288.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13076600-13084200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:13079400-13085400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:13082000-13083200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:13082200-13083200	Enhancers	HMEC	breast
5	chr7:13082200-13083400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:13082200-13083400	Enhancers	NHEK	skin
7	chr7:13082400-13085400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:13082600-13083200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:13082600-13085600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:13082800-13083400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:13082800-13084000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:13082800-13084200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:13082800-13085400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:13082800-13085600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:13082800-13089800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:13083000-13084200	Enhancers	A549	lung

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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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