Variant report

Variant	rs8005247
Chromosome Location	chr14:81923163-81923164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11845580	1.00[EUR][1000 genomes]
rs11849005	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17111687	1.00[EUR][1000 genomes]
rs17111693	1.00[EUR][1000 genomes]
rs17111721	1.00[EUR][1000 genomes]
rs7149494	1.00[EUR][1000 genomes]
rs7154235	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81916600-81925800	Weak transcription	Spleen	Spleen
2	chr14:81917000-81931000	Weak transcription	Placenta	Placenta
3	chr14:81919600-81925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:81919600-81927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:81919600-81931000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:81919800-81925000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:81920000-81926000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:81920600-81925600	Weak transcription	Brain Germinal Matrix	brain
9	chr14:81921400-81930600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:81922000-81925800	Weak transcription	HepG2	liver

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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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