Variant report

Variant	rs28464324
Chromosome Location	chr14:81069970-81069971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10083541	1.00[AMR][1000 genomes]
rs10137577	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140767	1.00[AMR][1000 genomes]
rs10143950	1.00[AMR][1000 genomes]
rs10146558	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146613	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147896	1.00[AMR][1000 genomes]
rs10148198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151668	1.00[AMR][1000 genomes]
rs10162376	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10162496	1.00[AMR][1000 genomes]
rs10220635	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12323448	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13379189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17110881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28376824	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452095	1.00[AMR][1000 genomes]
rs28603151	1.00[AMR][1000 genomes]
rs28753378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28825072	1.00[AMR][1000 genomes]
rs28887590	1.00[AMR][1000 genomes]
rs4400984	1.00[AMR][1000 genomes]
rs55854538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57574075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58018311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs716483	1.00[AMR][1000 genomes]
rs74064209	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066003	0.98[AFR][1000 genomes];1.00[AMR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv902116	chr14:81018237-81082400	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr14:81052400-81070000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:81062200-81082200	Weak transcription	Dnd41	blood
3	chr14:81068600-81070200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:81068600-81070600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:81069400-81070200	Enhancers	Brain Substantia Nigra	brain
6	chr14:81069600-81070000	Enhancers	Brain Hippocampus Middle	brain
7	chr14:81069600-81073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:81069800-81070000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr14:81069800-81070200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:81069800-81071800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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