Variant report

Variant	rs28694694
Chromosome Location	chr7:78909978-78909979
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10246925	0.97[AFR][1000 genomes]
rs10248245	0.91[AFR][1000 genomes]
rs10254566	0.92[AFR][1000 genomes]
rs10257920	0.97[AFR][1000 genomes]
rs10265495	0.92[AFR][1000 genomes]
rs10270882	0.97[AFR][1000 genomes]
rs10441342	0.80[AFR][1000 genomes]
rs28379793	0.97[AFR][1000 genomes]
rs28513656	0.97[AFR][1000 genomes]
rs28553964	0.91[AFR][1000 genomes]
rs55653170	1.00[AFR][1000 genomes]
rs58778670	0.92[AFR][1000 genomes]
rs73704120	0.97[AFR][1000 genomes]
rs73704122	0.92[AFR][1000 genomes]
rs73704148	0.97[AFR][1000 genomes]
rs73707603	1.00[AFR][1000 genomes]
rs73707609	1.00[AFR][1000 genomes]
rs954896	0.97[AFR][1000 genomes]
rs9886064	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv437988	chr7:78806100-78910974	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv831041	chr7:78819499-78973222	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv971530	chr7:78909395-78914563	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78896800-78911600	Weak transcription	Aorta	Aorta
2	chr7:78902400-78910200	Weak transcription	Osteobl	bone
3	chr7:78902600-78911600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:78907600-78910800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:78907800-78911600	Weak transcription	Psoas Muscle	Psoas
6	chr7:78908000-78910400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:78908000-78911600	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:78908200-78910400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:78908600-78911600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:78908600-78911600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:78908800-78910000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:78909600-78911600	Enhancers	NHLF	lung
13	chr7:78909800-78910800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:78909800-78911400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:78909800-78911600	Enhancers	NHDF-Ad	bronchial

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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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