Variant report

Variant	rs73580417
Chromosome Location	chr11:120538153-120538154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs58520335	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58865460	0.97[AFR][1000 genomes]
rs58965576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60058140	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580485	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584529	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584534	0.97[AFR][1000 genomes];1.00[AMR][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	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1054407	chr11:120535570-120630114	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120514400-120543600	Weak transcription	Brain Substantia Nigra	brain
2	chr11:120520000-120543800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:120533200-120551800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:120533400-120543800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:120536600-120538400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:120537400-120538400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:120537600-120538600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:120537800-120538400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:120537800-120538400	Enhancers	Ovary	ovary
10	chr11:120538000-120538200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:120538000-120538200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr11:120538000-120538200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:120538000-120538200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:120538000-120538200	Bivalent Enhancer	Fetal Heart	heart
15	chr11:120538000-120538200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr11:120538000-120538200	Enhancers	Spleen	Spleen
17	chr11:120538000-120538400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:120538000-120538400	Enhancers	Pancreas	Pancrea
19	chr11:120538000-120538400	Bivalent Enhancer	Right Ventricle	heart
20	chr11:120538000-120538600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:120538000-120538600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:120538000-120538600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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