Variant report

Variant	rs73316362
Chromosome Location	chr14:78636843-78636844
allele	C/T
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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17107006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28542174	1.00[AMR][1000 genomes]
rs28731105	1.00[AMR][1000 genomes]
rs59184512	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308584	1.00[AMR][1000 genomes]
rs73308593	1.00[AMR][1000 genomes]
rs73310308	1.00[AMR][1000 genomes]
rs73316330	1.00[AMR][1000 genomes]
rs73316332	1.00[AMR][1000 genomes]
rs73316335	1.00[AMR][1000 genomes]
rs73316341	1.00[AMR][1000 genomes]
rs73316342	1.00[AMR][1000 genomes]
rs73316345	1.00[AMR][1000 genomes]
rs73316348	1.00[AMR][1000 genomes]
rs73316357	1.00[AMR][1000 genomes]
rs73316371	1.00[AMR][1000 genomes]
rs73316373	1.00[AMR][1000 genomes]
rs73316375	1.00[AMR][1000 genomes]
rs73316376	1.00[AMR][1000 genomes]
rs73322213	1.00[AMR][1000 genomes]
rs73322215	1.00[AMR][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:42 , 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	chr14:78636600-78637000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:78636600-78637000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:78636600-78637000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:78636600-78637000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:78636600-78637000	Flanking Active TSS	Brain Angular Gyrus	brain
8	chr14:78636600-78637000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr14:78636600-78637000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr14:78636600-78637200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr14:78636600-78637200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:78636600-78637200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:78636600-78637200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:78636600-78637200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr14:78636600-78637200	Active TSS	Colonic Mucosa	Colon
16	chr14:78636600-78637600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr14:78636600-78637600	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr14:78636600-78639600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:78636800-78637000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:78636800-78637000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:78636800-78637000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:78636800-78637000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:78636800-78637000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:78636800-78637000	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr14:78636800-78637000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr14:78636800-78637000	Flanking Active TSS	Fetal Brain Male	brain
27	chr14:78636800-78637000	Flanking Bivalent TSS/Enh	A549	lung
28	chr14:78636800-78637200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr14:78636800-78637200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:78636800-78637200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:78636800-78637200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr14:78636800-78637200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:78636800-78637200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr14:78636800-78637200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr14:78636800-78637200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
36	chr14:78636800-78637200	Bivalent/Poised TSS	Fetal Thymus	thymus
37	chr14:78636800-78637200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr14:78636800-78637200	Active TSS	Rectal Smooth Muscle	rectum
39	chr14:78636800-78637800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr14:78636800-78638600	Active TSS	Brain Hippocampus Middle	brain
41	chr14:78636800-78640200	Weak transcription	Lung	lung
42	chr14:78636800-78640800	Active TSS	Brain Anterior Caudate	brain

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