Variant report

Variant	rs8004027
Chromosome Location	chr14:78637182-78637183
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78629719..78632310-chr14:78635472..78637600,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12587659	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12589740	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1366	chr14:78633044-78677718	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1038627	chr14:78635498-78657912	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78636200-78641800	Active TSS	Fetal Brain Female	brain
2	chr14:78636400-78641400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr14:78636600-78637200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:78636600-78637200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:78636600-78637200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr14:78636600-78637200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:78636600-78637200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:78636600-78637200	Active TSS	Colonic Mucosa	Colon
9	chr14:78636600-78637600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr14:78636600-78637600	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr14:78636600-78639600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:78636800-78637200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:78636800-78637200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:78636800-78637200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:78636800-78637200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr14:78636800-78637200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:78636800-78637200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:78636800-78637200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr14:78636800-78637200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
20	chr14:78636800-78637200	Bivalent/Poised TSS	Fetal Thymus	thymus
21	chr14:78636800-78637200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr14:78636800-78637200	Active TSS	Rectal Smooth Muscle	rectum
23	chr14:78636800-78637800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr14:78636800-78638600	Active TSS	Brain Hippocampus Middle	brain
25	chr14:78636800-78640200	Weak transcription	Lung	lung
26	chr14:78636800-78640800	Active TSS	Brain Anterior Caudate	brain
27	chr14:78637000-78637200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:78637000-78637200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:78637000-78637200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:78637000-78637200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:78637000-78637200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:78637000-78637200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:78637000-78639600	Active TSS	Brain Angular Gyrus	brain
34	chr14:78637000-78639800	Active TSS	Brain Cingulate Gyrus	brain
35	chr14:78637000-78640800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:78637000-78641000	Active TSS	Fetal Brain Male	brain

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