Variant report

Variant	rs12099045
Chromosome Location	chr11:57774557-57774558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12099136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638091	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55653906	0.85[EUR][1000 genomes]
rs55720290	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55920197	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56041837	0.81[EUR][1000 genomes]
rs56205429	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv328	chr11:57744748-57789940	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv975361	chr11:57761225-57786621	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2761678	chr11:57768288-57810886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv972032	chr11:57771876-57774577	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3476441	chr11:57774108-57775087	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3443762	chr11:57774120-57775082	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv3476452	chr11:57774122-57775083	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57772600-57779000	Weak transcription	HepG2	liver
2	chr11:57773000-57774800	Enhancers	HUVEC	blood vessel
3	chr11:57773800-57775200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:57774200-57774600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:57774200-57774600	Enhancers	Left Ventricle	heart
6	chr11:57774200-57774800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:57774200-57774800	Enhancers	Esophagus	oesophagus
8	chr11:57774200-57774800	Enhancers	Right Atrium	heart
9	chr11:57774200-57774800	Enhancers	Right Ventricle	heart
10	chr11:57774200-57775000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:57774400-57774800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:57774400-57774800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:57774400-57774800	Enhancers	Psoas Muscle	Psoas

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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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