Variant report

Variant	rs17107951
Chromosome Location	chr14:70651194-70651195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11845845	1.00[CHB][hapmap]
rs61978208	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61978212	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17107951	PLEKHH1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70645600-70652200	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr14:70645600-70653000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr14:70646400-70653400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:70649200-70653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:70649600-70653200	Enhancers	Primary hematopoietic stem cells	blood
6	chr14:70650000-70653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:70650600-70651400	Flanking Active TSS	GM12878-XiMat	blood
8	chr14:70650600-70651600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr14:70651000-70651400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr14:70651000-70652000	Weak transcription	Psoas Muscle	Psoas

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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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