Variant report

Variant	rs6451254
Chromosome Location	chr5:36036278-36036279
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2289876	0.81[GIH][hapmap]
rs2289877	0.81[GIH][hapmap];0.88[YRI][hapmap]
rs56031003	0.86[EUR][1000 genomes]
rs72744506	0.86[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	nsv1025695	chr5:35902486-36036934	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3347042	chr5:35965538-36049066	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6451254	C9	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36031200-36047800	Weak transcription	Fetal Thymus	thymus
2	chr5:36033000-36036800	Enhancers	Fetal Intestine Small	intestine
3	chr5:36033600-36040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:36034000-36040600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:36034800-36037800	Enhancers	Fetal Intestine Large	intestine
6	chr5:36035000-36041800	Weak transcription	Fetal Lung	lung
7	chr5:36035800-36036600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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