Variant report

Variant	rs927388
Chromosome Location	chr14:70000030-70000031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10151991	0.94[AFR][1000 genomes]
rs11624394	0.94[AFR][1000 genomes]
rs4902729	0.94[AFR][1000 genomes]
rs4902731	0.94[AFR][1000 genomes]
rs6573888	0.88[AFR][1000 genomes]
rs6573891	0.94[AFR][1000 genomes]
rs7144385	1.00[AFR][1000 genomes]
rs8017561	0.94[AFR][1000 genomes]
rs8018613	0.94[AFR][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	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69996400-70000400	Enhancers	Stomach Mucosa	stomach
2	chr14:69998600-70000400	Enhancers	Esophagus	oesophagus
3	chr14:69998800-70000200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr14:69998800-70000200	Enhancers	Hela-S3	cervix
5	chr14:69999400-70000200	Enhancers	K562	blood
6	chr14:69999400-70000200	Bivalent Enhancer	NHEK	skin
7	chr14:69999800-70000200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:69999800-70000200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:70000000-70000200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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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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