Variant report

Variant	rs56338549
Chromosome Location	chr16:73125447-73125448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10153219	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10153220	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075955	1.00[ASN][1000 genomes]
rs12445917	1.00[ASN][1000 genomes]
rs12445932	1.00[ASN][1000 genomes]
rs56295898	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62052381	1.00[ASN][1000 genomes]
rs72795156	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795157	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72795159	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72795160	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795164	1.00[AFR][1000 genomes]
rs73592761	1.00[ASN][1000 genomes]
rs8055596	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73120400-73126200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr16:73120800-73126200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:73121400-73126200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr16:73121600-73126200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr16:73125000-73127200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:73125200-73125600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr16:73125200-73125800	Enhancers	HepG2	liver
8	chr16:73125200-73126800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr16:73125200-73127200	Enhancers	Brain Substantia Nigra	brain
10	chr16:73125200-73128200	Active TSS	Aorta	Aorta
11	chr16:73125400-73125600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr16:73125400-73126200	Weak transcription	Brain Germinal Matrix	brain
13	chr16:73125400-73126200	Enhancers	Brain Hippocampus Middle	brain
14	chr16:73125400-73126600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:73125400-73126800	Enhancers	Hela-S3	cervix
16	chr16:73125400-73129800	Weak transcription	Psoas Muscle	Psoas
17	chr16:73125400-73138000	Weak transcription	Right Atrium	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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