Variant report

Variant	rs545285
Chromosome Location	chr1:175824791-175824792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs476146	1.00[EUR][1000 genomes]
rs491240	1.00[EUR][1000 genomes]
rs508911	1.00[EUR][1000 genomes]
rs511759	1.00[EUR][1000 genomes]
rs531377	1.00[EUR][1000 genomes]
rs560031	1.00[EUR][1000 genomes]
rs573839	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7524237	1.00[EUR][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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175815800-175830400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:175817600-175825400	Weak transcription	Fetal Brain Male	brain
3	chr1:175817800-175825600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:175822600-175829800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:175823400-175827000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:175823800-175826600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:175824600-175826400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:175824600-175827400	Enhancers	Brain Germinal Matrix	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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