Variant report

Variant	rs5762876
Chromosome Location	chr22:29277549-29277550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2881637	1.00[ASN][1000 genomes]
rs5752830	1.00[ASN][1000 genomes]
rs5762873	0.96[ASN][1000 genomes]
rs5762890	0.90[ASN][1000 genomes]
rs5762891	0.90[ASN][1000 genomes]
rs5762893	0.90[ASN][1000 genomes]
rs5762895	0.89[ASN][1000 genomes]
rs5762900	0.89[ASN][1000 genomes]
rs7288513	0.89[ASN][1000 genomes]
rs7290364	0.85[ASN][1000 genomes]
rs73388860	0.98[ASN][1000 genomes]
rs9306461	1.00[ASN][1000 genomes]
rs9625613	0.96[ASN][1000 genomes]
rs9625622	1.00[ASN][1000 genomes]
rs9625628	1.00[ASN][1000 genomes]
rs9625640	1.00[ASN][1000 genomes]
rs9625641	0.90[ASN][1000 genomes]
rs9625645	0.89[ASN][1000 genomes]
rs9625647	0.89[ASN][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29266200-29278400	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29274000-29278400	Weak transcription	Liver	Liver
3	chr22:29274200-29278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:29274800-29278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:29276200-29278400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr22:29276200-29278400	Weak transcription	Brain Angular Gyrus	brain
7	chr22:29276400-29278200	Weak transcription	Fetal Heart	heart
8	chr22:29276400-29278400	Weak transcription	Stomach Mucosa	stomach
9	chr22:29276600-29278400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr22:29276600-29278600	Weak transcription	HSMMtube	muscle
11	chr22:29276800-29278000	Weak transcription	Fetal Muscle Leg	muscle
12	chr22:29276800-29278400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:29276800-29278400	Enhancers	HepG2	liver
14	chr22:29277200-29278600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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