Variant report

Variant	rs17488966
Chromosome Location	chr5:119770615-119770616
allele	C/T
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:18)

rs_ID	r²[population]
rs1432452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146657	1.00[AMR][1000 genomes]
rs17146672	1.00[AMR][1000 genomes]
rs17421815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17422218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17422615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17422685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17422844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17423226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17423413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17481162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17481204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17488014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17488069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17488416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17488458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17510029	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119742000-119775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119766800-119775600	Weak transcription	Psoas Muscle	Psoas
3	chr5:119768200-119770800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr5:119769200-119780800	Weak transcription	HSMM	muscle
5	chr5:119769800-119772200	Enhancers	Fetal Heart	heart
6	chr5:119770000-119772000	Weak transcription	HSMMtube	muscle
7	chr5:119770200-119771400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:119770200-119772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	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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