Variant report

Variant	rs68172234
Chromosome Location	chr7:79916564-79916565
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10954132	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12535164	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs55908064	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2761340	chr7:79905897-79922486	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79908000-79916600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:79913400-79922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:79913600-79916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:79914800-79917200	Weak transcription	NH-A	brain
5	chr7:79914800-79923400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:79915000-79917400	Weak transcription	Osteobl	bone
7	chr7:79915000-79923600	Weak transcription	NHLF	lung
8	chr7:79915200-79916600	Weak transcription	Fetal Brain Male	brain
9	chr7:79916400-79916600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:79916400-79916800	Enhancers	Adipose Nuclei	Adipose
11	chr7:79916400-79916800	Enhancers	Brain Angular Gyrus	brain
12	chr7:79916400-79917000	Enhancers	Brain Cingulate Gyrus	brain
13	chr7:79916400-79917000	Enhancers	Brain Hippocampus Middle	brain
14	chr7:79916400-79917000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:79916400-79917200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:79916400-79917800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:79916400-79918200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:79916400-79918200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:79916400-79918200	Enhancers	Brain Substantia Nigra	brain

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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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