Variant report

Variant	rs17883722
Chromosome Location	chr5:79351087-79351088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11958490	1.00[EUR][1000 genomes]
rs16877247	1.00[EUR][1000 genomes]
rs58066027	1.00[EUR][1000 genomes]
rs58965928	1.00[EUR][1000 genomes]
rs60225067	1.00[EUR][1000 genomes]
rs73125935	1.00[EUR][1000 genomes]
rs73125936	1.00[EUR][1000 genomes]
rs73125953	1.00[EUR][1000 genomes]
rs73125957	1.00[EUR][1000 genomes]
rs73125989	1.00[EUR][1000 genomes]
rs73772233	1.00[EUR][1000 genomes]
rs73772249	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	nsv882224	chr5:79335975-79351735	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv882225	chr5:79342519-79353428	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv882226	chr5:79346880-79353428	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv882227	chr5:79347336-79351735	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv882228	chr5:79347336-79353428	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv882229	chr5:79348759-79353428	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79338200-79363600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:79338200-79367600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:79338400-79355200	Weak transcription	Brain Anterior Caudate	brain
4	chr5:79339200-79354600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:79340000-79363400	Weak transcription	Left Ventricle	heart
6	chr5:79344200-79355200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:79345200-79364200	Weak transcription	Right Ventricle	heart
8	chr5:79347200-79351200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:79347800-79355600	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:79348200-79366400	Weak transcription	Brain Substantia Nigra	brain
11	chr5:79350600-79351400	Enhancers	HMEC	breast
12	chr5:79350600-79351600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:79350600-79363200	Weak transcription	Psoas Muscle	Psoas
14	chr5:79351000-79351400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:79351000-79352000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:79351000-79352400	Enhancers	NHEK	skin

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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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