Variant report

Variant	rs72994672
Chromosome Location	chr11:119844641-119844642
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11217608	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600005	1.00[ASN][1000 genomes]
rs17123461	1.00[ASN][1000 genomes]
rs17123466	1.00[ASN][1000 genomes]
rs4403813	1.00[ASN][1000 genomes]
rs550764	1.00[ASN][1000 genomes]
rs55646454	1.00[ASN][1000 genomes]
rs55895660	1.00[ASN][1000 genomes]
rs56816645	1.00[ASN][1000 genomes]
rs61897867	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61899043	1.00[ASN][1000 genomes]
rs657317	1.00[ASN][1000 genomes]
rs7105596	1.00[ASN][1000 genomes]
rs7925677	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119836200-119845600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:119841600-119845600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:119844200-119846200	Enhancers	Fetal Muscle Trunk	muscle
4	chr11:119844200-119847800	Enhancers	Fetal Muscle Leg	muscle
5	chr11:119844200-119849600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:119844400-119844800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:119844400-119844800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr11:119844400-119846000	Enhancers	Brain Anterior Caudate	brain
9	chr11:119844400-119846200	Enhancers	Brain Cingulate Gyrus	brain
10	chr11:119844400-119846200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr11:119844400-119846400	Enhancers	Brain Angular Gyrus	brain
12	chr11:119844400-119846600	Enhancers	Brain Hippocampus Middle	brain
13	chr11:119844400-119846600	Enhancers	Brain Substantia Nigra	brain
14	chr11:119844400-119847000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:119844400-119847000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:119844400-119847200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:119844600-119844800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:119844600-119846000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:119844600-119846200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:119844600-119846800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:119844600-119846800	Enhancers	Adipose Nuclei	Adipose
22	chr11:119844600-119847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:119844600-119847400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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