Variant report

Variant	rs7480266
Chromosome Location	chr11:9583239-9583240
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10770040	0.85[EUR][1000 genomes]
rs10840260	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840261	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042422	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1988828	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2313087	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910479	0.85[EUR][1000 genomes]
rs6486426	0.83[AMR][1000 genomes]
rs7108372	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7109773	0.86[EUR][1000 genomes]
rs7115385	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7115649	0.83[EUR][1000 genomes]
rs7929469	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv971928	chr11:9561378-9586236	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9547800-9586600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr11:9550600-9586600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:9557400-9584400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:9566400-9587400	Weak transcription	Psoas Muscle	Psoas
5	chr11:9569600-9584400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:9573600-9584200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:9573800-9584800	Weak transcription	Left Ventricle	heart
8	chr11:9573800-9585000	Weak transcription	Lung	lung
9	chr11:9573800-9586000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:9573800-9586600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:9573800-9586600	Weak transcription	Pancreas	Pancrea
12	chr11:9573800-9587800	Weak transcription	Gastric	stomach
13	chr11:9577000-9584400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:9579000-9590200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:9582800-9586600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:9583000-9590200	Weak transcription	Primary T cells from cord blood	blood
17	chr11:9583200-9586400	Weak transcription	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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