Variant report

Variant	rs5994594
Chromosome Location	chr22:33032458-33032459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12158696	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs131065	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs16990836	0.81[CEU][hapmap]
rs17700898	0.81[CEU][hapmap]
rs17774399	0.82[CEU][hapmap];1.00[CHD][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3788467	0.90[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.82[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5998562	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60378048	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62232746	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62232753	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62234572	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73154348	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9621517	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5994594	TTC28	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33025400-33033200	Weak transcription	Fetal Kidney	kidney
2	chr22:33029000-33032600	Weak transcription	Fetal Muscle Leg	muscle
3	chr22:33029000-33032600	Weak transcription	Placenta	Placenta
4	chr22:33029000-33039200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr22:33029200-33036000	Weak transcription	Fetal Stomach	stomach
6	chr22:33030800-33033400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:33031000-33040000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:33032000-33033200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr22:33032400-33033400	Enhancers	HepG2	liver
10	chr22:33032400-33033600	Enhancers	Fetal Thymus	thymus

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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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