Variant report

Variant	rs11919070
Chromosome Location	chr3:118710412-118710413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10212391	1.00[EUR][1000 genomes]
rs11917432	1.00[AMR][1000 genomes]
rs11917872	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11921594	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11923296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11924178	0.82[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11925505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11928039	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11929112	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34414843	1.00[EUR][1000 genomes]
rs60177242	1.00[EUR][1000 genomes]
rs6762269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6766405	1.00[EUR][1000 genomes]
rs6809801	1.00[EUR][1000 genomes]
rs72953018	1.00[EUR][1000 genomes]
rs72966806	1.00[EUR][1000 genomes]
rs9813328	1.00[EUR][1000 genomes]
rs9834188	1.00[EUR][1000 genomes]
rs9847272	1.00[EUR][1000 genomes]
rs9854240	1.00[EUR][1000 genomes]
rs9860233	1.00[EUR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1010475	chr3:118657382-118789714	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv877369	chr3:118681771-118824418	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2756586	chr3:118688611-118863998	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118702200-118710600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:118707600-118714800	Weak transcription	Pancreas	Pancrea
3	chr3:118707800-118710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:118707800-118710800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:118708000-118711400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:118708200-118710600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:118708200-118711400	Weak transcription	Ovary	ovary
8	chr3:118709400-118711600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:118709600-118712000	Enhancers	Brain Germinal Matrix	brain
10	chr3:118709800-118710600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:118709800-118710800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:118709800-118711000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:118710000-118711000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:118710000-118711200	Active TSS	Brain Anterior Caudate	brain
15	chr3:118710000-118711400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:118710200-118710800	Active TSS	Stomach Smooth Muscle	stomach
17	chr3:118710200-118711000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:118710200-118711000	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:118710200-118711200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:118710200-118711200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:118710200-118711200	Weak transcription	Brain Angular Gyrus	brain
22	chr3:118710200-118711200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:118710400-118710600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr3:118710400-118710800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:118710400-118710800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr3:118710400-118711400	Weak transcription	Brain Substantia Nigra	brain

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