Variant report

Variant	rs717836
Chromosome Location	chr8:114750129-114750130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1470303	0.99[ASN][1000 genomes]
rs1470304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884991	0.81[AMR][1000 genomes]
rs17613558	0.84[AMR][1000 genomes]
rs17691740	0.84[AMR][1000 genomes]
rs17691787	0.84[AMR][1000 genomes]
rs17692270	0.84[AMR][1000 genomes]
rs56345016	0.84[AMR][1000 genomes]
rs56957615	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7818075	0.84[AMR][1000 genomes]
rs986599	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv818650	chr8:114574863-115477600	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2758168	chr8:114575703-115321957	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2759636	chr8:114575703-115321957	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv891336	chr8:114667112-114753522	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1851155	chr8:114673166-114773729	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv6355	chr8:114709304-114754070	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv465767	chr8:114732648-114817903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv611953	chr8:114732648-114817903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs717836	CN5H6.4	trans	lymphoblastoid	seeQTL
rs717836	KCNV1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114747400-114752200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:114747400-114752800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:114747600-114752200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:114749800-114753000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:114750000-114751800	Enhancers	Muscle Satellite Cultured Cells	--

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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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