Variant report

Variant	rs6713501
Chromosome Location	chr2:114880874-114880875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57443397	1.00[AMR][1000 genomes]
rs73955657	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	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv829624	chr2:114791945-115119926	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3381703	chr2:114794745-114989429	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114878000-114881200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:114880000-114881200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:114880400-114881000	Enhancers	Brain Hippocampus Middle	brain
4	chr2:114880400-114881200	Enhancers	Fetal Brain Female	brain
5	chr2:114880600-114881000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:114880600-114881000	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:114880600-114881400	Enhancers	Brain Germinal Matrix	brain
8	chr2:114880600-114881400	Enhancers	Fetal Lung	lung
9	chr2:114880600-114881600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:114880800-114881200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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