Variant report

Variant	rs12878331
Chromosome Location	chr14:78454154-78454155
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10483888	1.00[ASN][1000 genomes]
rs12881440	1.00[ASN][1000 genomes]
rs12882563	1.00[ASN][1000 genomes]
rs12888166	1.00[ASN][1000 genomes]
rs3952581	1.00[ASN][1000 genomes]
rs8020999	1.00[ASN][1000 genomes]
rs961137	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv34345	chr14:78370455-78496587	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2757576	chr14:78379156-78502019	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759999	chr14:78379156-78502019	Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr14:78447800-78457200	Weak transcription	Fetal Thymus	thymus
2	chr14:78451200-78455200	Enhancers	Brain Hippocampus Middle	brain
3	chr14:78451800-78454600	Weak transcription	HSMM	muscle
4	chr14:78452000-78454200	Weak transcription	Brain Angular Gyrus	brain
5	chr14:78452000-78454400	Weak transcription	Adipose Nuclei	Adipose
6	chr14:78452000-78454400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:78452000-78454400	Weak transcription	NHLF	lung
8	chr14:78452000-78454600	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:78452000-78454800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:78452000-78455200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:78452000-78455200	Weak transcription	HSMMtube	muscle
12	chr14:78452000-78455400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:78452000-78455400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:78452000-78455400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:78452000-78455400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:78452000-78455400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:78452200-78454400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:78452200-78454600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:78452200-78454600	Weak transcription	NH-A	brain
20	chr14:78452400-78457400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:78452600-78457200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:78453200-78456200	Enhancers	Brain Substantia Nigra	brain
23	chr14:78453800-78454200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:78453800-78454600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr14:78453800-78456200	Enhancers	Brain Anterior Caudate	brain
26	chr14:78454000-78459000	Enhancers	Brain Cingulate Gyrus	brain

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