Variant report

Variant	rs978543
Chromosome Location	chr7:124357611-124357612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1319514	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs702426	0.85[ASN][1000 genomes]
rs7800504	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs849647	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1027091	chr7:124311742-124388908	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124352000-124363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:124353400-124360200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:124353400-124360400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:124353600-124364200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:124354000-124359800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:124354600-124358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:124355200-124362600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:124357200-124359400	Weak transcription	Brain Substantia Nigra	brain
9	chr7:124357400-124358200	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:124357600-124357800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	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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