Variant report

Variant	rs57388154
Chromosome Location	chr14:79065574-79065575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1035612	1.00[AFR][1000 genomes]
rs12586229	1.00[AFR][1000 genomes]
rs12587427	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12588327	1.00[AFR][1000 genomes]
rs12588444	1.00[AFR][1000 genomes]
rs12590740	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590819	1.00[ASN][1000 genomes]
rs17107869	1.00[AFR][1000 genomes]
rs17107885	1.00[AFR][1000 genomes]
rs17107887	1.00[AFR][1000 genomes]
rs17107898	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17107907	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17107912	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17107978	1.00[AFR][1000 genomes]
rs17107986	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17107993	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17108011	1.00[AFR][1000 genomes]
rs17108021	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17108073	1.00[AFR][1000 genomes]
rs17108078	1.00[AFR][1000 genomes]
rs2287495	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56658384	1.00[AFR][1000 genomes]
rs56813549	1.00[AFR][1000 genomes]
rs58271165	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs58355788	1.00[AFR][1000 genomes]
rs58525848	1.00[AFR][1000 genomes]
rs59354957	1.00[AFR][1000 genomes]
rs7142533	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7148807	0.87[EUR][1000 genomes]
rs7153070	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7153811	0.87[EUR][1000 genomes]
rs8003025	1.00[AFR][1000 genomes]
rs8012296	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34435	chr14:79055398-79111151	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv2757578	chr14:79055398-79140536	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	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	chr14:79061600-79065600	Enhancers	Brain Germinal Matrix	brain
2	chr14:79063400-79071800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:79064800-79069000	Weak transcription	Osteobl	bone
4	chr14:79065000-79068400	Weak transcription	NHDF-Ad	bronchial
5	chr14:79065000-79071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:79065000-79077400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:79065200-79068400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:79065400-79071200	Weak transcription	Fetal Brain Male	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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