Variant report

Variant	rs554763312
Chromosome Location	chr3:118689492-118689493
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118681200-118694000	Enhancers	Brain Substantia Nigra	brain
2	chr3:118681400-118690000	Enhancers	Brain Hippocampus Middle	brain
3	chr3:118681800-118692800	Enhancers	Brain Anterior Caudate	brain
4	chr3:118683400-118696200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:118684400-118690000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:118684600-118690200	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:118684800-118690200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:118684800-118694000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:118685000-118690000	Enhancers	Brain Angular Gyrus	brain
10	chr3:118686600-118690200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:118687000-118690000	Enhancers	Stomach Smooth Muscle	stomach
12	chr3:118687200-118690200	Enhancers	Fetal Heart	heart
13	chr3:118687400-118691800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:118687400-118691800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:118687800-118690400	Enhancers	Brain Germinal Matrix	brain
16	chr3:118688600-118691200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:118688800-118706000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:118689000-118691600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:118689000-118703600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:118689200-118689800	Weak transcription	Left Ventricle	heart
21	chr3:118689400-118689800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:118689400-118690200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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