Variant report

Variant	rs17408253
Chromosome Location	chr14:32888621-32888622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:32888504-32889012	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr14:32888546-32889037	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000258580	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10444700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12432844	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12890042	0.82[JPT][hapmap]
rs17099047	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17099069	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs17408295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17486543	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17486760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951183	0.82[CHB][hapmap]
rs1951185	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2383301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57050663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59004359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571514	0.82[CHB][hapmap]
rs8014419	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr14:32876800-32895800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:32880200-32889000	Enhancers	Brain Cingulate Gyrus	brain
3	chr14:32882600-32888800	Enhancers	Brain Hippocampus Middle	brain
4	chr14:32884800-32888800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:32885400-32889600	Enhancers	Brain Substantia Nigra	brain
6	chr14:32885800-32889400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:32886200-32888800	Enhancers	Fetal Heart	heart
8	chr14:32886200-32889000	Enhancers	HSMM	muscle
9	chr14:32886400-32891200	Weak transcription	Fetal Brain Female	brain
10	chr14:32886600-32888800	Enhancers	Hela-S3	cervix
11	chr14:32886600-32889600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:32887000-32889200	Enhancers	Brain Anterior Caudate	brain
13	chr14:32887200-32888800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:32887200-32891000	Active TSS	Right Ventricle	heart
15	chr14:32887600-32889000	Enhancers	HSMMtube	muscle
16	chr14:32887600-32889400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:32887800-32889600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:32887800-32891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:32887800-32895800	Weak transcription	Left Ventricle	heart
20	chr14:32887800-32901800	Weak transcription	Ovary	ovary
21	chr14:32888000-32891000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:32888000-32891000	Weak transcription	NH-A	brain
23	chr14:32888000-32891400	Weak transcription	Osteobl	bone
24	chr14:32888400-32889600	Weak transcription	Brain Angular Gyrus	brain
25	chr14:32888600-32888800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:32888600-32888800	Enhancers	Colon Smooth Muscle	Colon

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