Variant report

Variant	rs8008595
Chromosome Location	chr14:32363642-32363643
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1278866	0.81[ASN][1000 genomes]
rs1278867	0.81[ASN][1000 genomes]
rs1278868	0.81[ASN][1000 genomes]
rs12878699	0.81[ASN][1000 genomes]
rs12897964	0.82[ASN][1000 genomes]
rs1953271	0.89[ASN][1000 genomes]
rs1953272	0.90[ASN][1000 genomes]
rs1953273	0.87[ASN][1000 genomes]
rs1963748	0.90[ASN][1000 genomes]
rs2378971	0.83[ASN][1000 genomes]
rs34855165	0.82[ASN][1000 genomes]
rs35304997	0.81[ASN][1000 genomes]
rs4981926	0.92[ASN][1000 genomes]
rs4981927	0.91[ASN][1000 genomes]
rs4981928	0.86[ASN][1000 genomes]
rs56232824	0.81[ASN][1000 genomes]
rs57516226	0.83[ASN][1000 genomes]
rs8008105	0.96[ASN][1000 genomes]
rs8009593	1.00[ASN][1000 genomes]

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	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32354400-32364600	Weak transcription	HSMM	muscle
2	chr14:32358800-32366600	Weak transcription	Fetal Brain Female	brain
3	chr14:32360600-32365000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:32360600-32365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:32360800-32365200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:32361000-32365200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:32361200-32364800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:32361400-32365200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:32362000-32364000	Enhancers	Adipose Nuclei	Adipose
10	chr14:32362000-32365200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:32362200-32363800	Enhancers	Fetal Heart	heart
12	chr14:32362200-32365200	Enhancers	Stomach Mucosa	stomach
13	chr14:32362400-32363800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:32362400-32364000	Enhancers	Fetal Muscle Leg	muscle
15	chr14:32362400-32364200	Enhancers	Lung	lung
16	chr14:32362400-32364200	Enhancers	NHEK	skin
17	chr14:32362400-32364800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:32362400-32365000	Enhancers	Brain Cingulate Gyrus	brain
19	chr14:32362400-32365200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:32362400-32365200	Enhancers	Brain Hippocampus Middle	brain
21	chr14:32362400-32365200	Enhancers	HMEC	breast
22	chr14:32362600-32364000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:32362600-32364000	Weak transcription	Brain Angular Gyrus	brain
24	chr14:32362600-32364200	Weak transcription	NHLF	lung
25	chr14:32362600-32364400	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:32362600-32365000	Enhancers	Fetal Stomach	stomach
27	chr14:32362600-32365200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:32362600-32365600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:32362800-32364000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:32362800-32364000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:32362800-32364200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:32362800-32364200	Weak transcription	Osteobl	bone
33	chr14:32363000-32364000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:32363000-32364000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:32363000-32364000	Weak transcription	Brain Substantia Nigra	brain
36	chr14:32363000-32364200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:32363000-32364200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:32363000-32364200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:32363000-32364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:32363000-32364800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:32363000-32366800	Weak transcription	Fetal Lung	lung
42	chr14:32363200-32363800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:32363200-32364000	Weak transcription	Placenta	Placenta
44	chr14:32363200-32364200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:32363200-32364200	Flanking Active TSS	K562	blood
46	chr14:32363200-32364600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:32363200-32365600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:32363200-32366200	Weak transcription	Left Ventricle	heart
49	chr14:32363400-32363800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:32363400-32363800	Weak transcription	Right Ventricle	heart

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