Variant report

Variant	rs17493199
Chromosome Location	chr18:25547830-25547831
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11564302	1.00[AMR][1000 genomes]
rs11564317	1.00[AMR][1000 genomes]
rs11564402	1.00[AMR][1000 genomes]
rs11564407	1.00[AMR][1000 genomes]
rs17494220	1.00[AMR][1000 genomes]
rs17522375	1.00[AMR][1000 genomes]
rs17522534	1.00[AMR][1000 genomes]
rs17535524	1.00[AMR][1000 genomes]
rs7244253	1.00[AMR][1000 genomes]
rs8084090	1.00[AMR][1000 genomes]
rs8092981	1.00[AMR][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	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2760473	chr18:25386088-25571466	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1066192	chr18:25454413-25606736	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv543669	chr18:25454413-25606736	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv833605	chr18:25467096-25643447	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25530800-25555400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:25531000-25548000	Weak transcription	Right Ventricle	heart
3	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
4	chr18:25536400-25578200	Weak transcription	Fetal Brain Male	brain
5	chr18:25536600-25554200	Weak transcription	HSMMtube	muscle
6	chr18:25536800-25574200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:25538200-25548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:25540200-25564600	Weak transcription	Ovary	ovary
9	chr18:25540600-25548200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:25540600-25554600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr18:25540600-25555200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:25540800-25555800	Weak transcription	Brain Angular Gyrus	brain
13	chr18:25540800-25564400	Weak transcription	Brain Hippocampus Middle	brain
14	chr18:25540800-25576400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:25541400-25548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:25541600-25552400	Weak transcription	Dnd41	blood
17	chr18:25541600-25555400	Weak transcription	Aorta	Aorta
18	chr18:25542800-25574400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:25543400-25551800	Weak transcription	Fetal Brain Female	brain
20	chr18:25544000-25555000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:25544400-25572400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:25544600-25548000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr18:25545200-25556000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr18:25545400-25554400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:25545400-25554600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr18:25545400-25554600	Weak transcription	Brain Germinal Matrix	brain
27	chr18:25545400-25555000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:25545400-25564800	Weak transcription	HUVEC	blood vessel
29	chr18:25545600-25554400	Weak transcription	Brain Anterior Caudate	brain
30	chr18:25545600-25554600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr18:25545600-25588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr18:25545800-25548000	Weak transcription	Liver	Liver
33	chr18:25546400-25548000	Enhancers	Fetal Heart	heart
34	chr18:25546800-25551400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:25547000-25548600	Enhancers	Osteobl	bone
36	chr18:25547200-25548200	Weak transcription	Left Ventricle	heart
37	chr18:25547400-25548600	Enhancers	Fetal Lung	lung
38	chr18:25547400-25554800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:25547600-25548400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr18:25547600-25548600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:25547600-25548800	Enhancers	HepG2	liver
42	chr18:25547600-25549600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:25547600-25552400	Weak transcription	HSMM	muscle
44	chr18:25547800-25548000	Active TSS	A549	lung
45	chr18:25547800-25548600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr18:25547800-25548800	Genic enhancers	NH-A	brain
47	chr18:25547800-25549600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:25547800-25549600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:25547800-25554200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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