Variant report

Variant	rs11600004
Chromosome Location	chr11:120708132-120708133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10892628	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892629	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11218014	1.00[ASN][1000 genomes]
rs11601867	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11606105	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607580	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11608113	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28737445	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4526780	0.90[AMR][1000 genomes]
rs55966937	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56100434	1.00[ASN][1000 genomes]
rs56129109	1.00[ASN][1000 genomes]
rs7103097	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7123228	0.84[AMR][1000 genomes]
rs73003760	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73007811	1.00[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	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832286	chr11:120585843-120745846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120699400-120729200	Weak transcription	Fetal Lung	lung
2	chr11:120703600-120714600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120704400-120728400	Weak transcription	Brain Anterior Caudate	brain
4	chr11:120704400-120746000	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:120704400-120748800	Weak transcription	Brain Substantia Nigra	brain
6	chr11:120705800-120708400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:120706800-120708800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:120707200-120708600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:120707400-120708600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:120707400-120710600	Weak transcription	GM12878-XiMat	blood
11	chr11:120707800-120708200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:120707800-120708400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:120707800-120709600	Weak transcription	HepG2	liver
14	chr11:120708000-120709000	Enhancers	Fetal Muscle Leg	muscle
15	chr11:120708000-120728800	Weak transcription	Ovary	ovary

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

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