Variant report

Variant	rs306720
Chromosome Location	chr7:79902088-79902089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11977416	1.00[AMR][1000 genomes]
rs11983158	1.00[AMR][1000 genomes]
rs11984061	1.00[AMR][1000 genomes]
rs306712	1.00[AMR][1000 genomes]
rs55683109	1.00[AMR][1000 genomes]
rs55936775	1.00[AMR][1000 genomes]
rs55955977	1.00[AMR][1000 genomes]
rs56070908	1.00[AMR][1000 genomes]
rs56118905	1.00[AMR][1000 genomes]
rs56280525	1.00[AMR][1000 genomes]
rs56321281	1.00[AMR][1000 genomes]
rs59650177	1.00[AMR][1000 genomes]
rs60477208	1.00[AMR][1000 genomes]
rs61320349	1.00[AMR][1000 genomes]
rs73708723	1.00[AMR][1000 genomes]
rs73711029	1.00[AMR][1000 genomes]
rs73711031	1.00[AMR][1000 genomes]
rs73711032	1.00[AMR][1000 genomes]
rs73711033	1.00[AMR][1000 genomes]
rs7793201	1.00[AMR][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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79898800-79911000	Weak transcription	Small Intestine	intestine
2	chr7:79901600-79902400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:79901600-79903400	Enhancers	NHLF	lung
4	chr7:79901600-79903600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:79901600-79908000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:79901800-79902400	Enhancers	Fetal Lung	lung
7	chr7:79901800-79902400	Enhancers	HepG2	liver
8	chr7:79901800-79902600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:79901800-79903000	Enhancers	A549	lung
10	chr7:79901800-79905600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:79902000-79903600	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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