Variant report

Variant	rs8018613
Chromosome Location	chr14:70012440-70012441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10151991	1.00[AFR][1000 genomes]
rs11624394	1.00[AFR][1000 genomes]
rs1275741	0.81[AFR][1000 genomes]
rs1275743	0.81[AFR][1000 genomes]
rs1275822	0.81[AFR][1000 genomes]
rs2181051	0.81[AFR][1000 genomes]
rs4902729	1.00[AFR][1000 genomes]
rs4902731	1.00[AFR][1000 genomes]
rs4902740	0.81[AFR][1000 genomes]
rs6573888	0.94[AFR][1000 genomes]
rs6573891	1.00[AFR][1000 genomes]
rs7144385	0.94[AFR][1000 genomes]
rs8017561	0.88[AFR][1000 genomes]
rs927388	0.94[AFR][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	nsv510642	chr14:69983293-70030335	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv564968	chr14:70000399-70021562	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv564969	chr14:70000399-70022351	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv564970	chr14:70000399-70040161	Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv94	chr14:70002365-70030415	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1334	chr14:70002365-70032641	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1036936	chr14:70004606-70022932	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv564971	chr14:70007215-70022404	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1037575	chr14:70012381-70022455	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70002400-70014600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:70007000-70014400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70010200-70014000	Weak transcription	Fetal Brain Male	brain
4	chr14:70010600-70014400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:70011000-70012600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:70011200-70014200	Weak transcription	Brain Germinal Matrix	brain
7	chr14:70011400-70014000	Weak transcription	Fetal Brain Female	brain
8	chr14:70011400-70014600	Weak transcription	HMEC	breast

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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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