Variant report

Variant	rs17882223
Chromosome Location	chr5:79332377-79332378
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17880038	1.00[AMR][1000 genomes]
rs17882650	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17882731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17884706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885154	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885404	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870639	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870882	1.00[AMR][1000 genomes]
rs73770667	1.00[AMR][1000 genomes]
rs7711310	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv882219	chr5:79320677-79354147	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882220	chr5:79321439-79335975	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882221	chr5:79321439-79350726	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882222	chr5:79321439-79354147	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv598743	chr5:79329538-79335267	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3423458	chr5:79330021-79332569	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv882223	chr5:79330559-79357117	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:79330800-79332800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
2	chr5:79331000-79332800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
3	chr5:79331000-79332800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
4	chr5:79331800-79335200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:79332000-79332800	Active TSS	Fetal Muscle Trunk	muscle
6	chr5:79332000-79337200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:79332200-79332600	Active TSS	Brain Angular Gyrus	brain
8	chr5:79332200-79332800	Active TSS	Brain Anterior Caudate	brain
9	chr5:79332200-79335600	Weak transcription	Brain Substantia Nigra	brain
10	chr5:79332200-79337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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