Variant report

Variant	rs56340051
Chromosome Location	chr14:72557073-72557074
allele	A/G
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:8)

rs_ID	r²[population]
rs11158944	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158945	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158946	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17768636	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56220001	0.90[EUR][1000 genomes]
rs7154337	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72719807	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72737869	0.97[EUR][1000 genomes];0.86[ASN][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72551000-72560800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72555600-72560000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72556200-72557200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:72556800-72558000	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:72556800-72563400	Weak transcription	Left Ventricle	heart
6	chr14:72556800-72563400	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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