Variant report

Variant	rs354979
Chromosome Location	chr5:173909551-173909552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1827287	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs241870	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2560338	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2560341	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2651295	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2651296	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs354959	0.86[EUR][1000 genomes]
rs794741	0.97[EUR][1000 genomes]
rs9764154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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	nsv530479	chr5:173376776-174327398	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv917131	chr5:173543321-174059803	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1020486	chr5:173718254-174051668	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv537953	chr5:173718254-174051668	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr5:173907400-173910400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:173908400-173910400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:173909400-173909600	Enhancers	Duodenum Mucosa	Duodenum
4	chr5:173909400-173910200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:173909400-173910400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:173909400-173910400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:173909400-173910400	Enhancers	Fetal Intestine Small	intestine
8	chr5:173909400-173911000	Enhancers	Stomach Mucosa	stomach

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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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