Variant report

Variant	rs11080611
Chromosome Location	chr18:12909815-12909816
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:12)

rs_ID	r²[population]
rs12607415	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1983424	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34568924	0.97[ASN][1000 genomes]
rs3848468	0.85[JPT][hapmap]
rs3915012	0.85[JPT][hapmap]
rs4796969	0.87[CEU][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4797716	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4797717	0.92[ASN][1000 genomes]
rs8090365	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8094285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9958611	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9962435	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12904400-12911200	Weak transcription	Spleen	Spleen
2	chr18:12904600-12910000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:12906800-12911000	Weak transcription	Right Ventricle	heart
4	chr18:12907000-12911000	Weak transcription	Gastric	stomach
5	chr18:12907400-12911000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:12907400-12911200	Weak transcription	Lung	lung
7	chr18:12907600-12913600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:12908200-12911000	Weak transcription	Right Atrium	heart
9	chr18:12908400-12911000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:12908400-12911200	Weak transcription	Ovary	ovary
11	chr18:12908800-12911000	Weak transcription	Left Ventricle	heart
12	chr18:12909000-12910200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:12909000-12911000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:12909000-12911200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:12909200-12911000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr18:12909200-12911000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr18:12909200-12911000	Weak transcription	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
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