Variant report

Variant	rs17468047
Chromosome Location	chr18:25547171-25547172
allele	C/T
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]
rs1009756	1.00[JPT][hapmap]
rs11083240	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]
rs17445385	0.87[ASN][1000 genomes]
rs17445468	0.87[ASN][1000 genomes]
rs17445496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17445742	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs17445798	1.00[CEU][hapmap]
rs17467983	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17468075	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]
rs17468095	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17468818	1.00[CEU][hapmap]
rs17469343	1.00[CEU][hapmap]
rs17493493	1.00[CEU][hapmap]
rs2077362	1.00[CEU][hapmap]
rs2289664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62101446	0.87[ASN][1000 genomes]
rs62101448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944769	0.87[ASN][1000 genomes]
rs9964071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];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	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	chr18:25528600-25547600	Weak transcription	HepG2	liver
2	chr18:25530800-25555400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr18:25531000-25548000	Weak transcription	Right Ventricle	heart
4	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
5	chr18:25536400-25578200	Weak transcription	Fetal Brain Male	brain
6	chr18:25536600-25554200	Weak transcription	HSMMtube	muscle
7	chr18:25536800-25574200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:25538200-25548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:25538800-25547400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:25540200-25564600	Weak transcription	Ovary	ovary
11	chr18:25540400-25547600	Strong transcription	HSMM	muscle
12	chr18:25540600-25548200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:25540600-25554600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr18:25540600-25555200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:25540800-25555800	Weak transcription	Brain Angular Gyrus	brain
16	chr18:25540800-25564400	Weak transcription	Brain Hippocampus Middle	brain
17	chr18:25540800-25576400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:25541400-25548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:25541600-25547600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:25541600-25552400	Weak transcription	Dnd41	blood
21	chr18:25541600-25555400	Weak transcription	Aorta	Aorta
22	chr18:25542800-25574400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr18:25543400-25551800	Weak transcription	Fetal Brain Female	brain
24	chr18:25544000-25555000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:25544400-25572400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:25544600-25548000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr18:25544800-25547800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:25545200-25556000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr18:25545400-25547200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr18:25545400-25547600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:25545400-25547800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:25545400-25547800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:25545400-25547800	Weak transcription	A549	lung
34	chr18:25545400-25554400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr18:25545400-25554600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:25545400-25554600	Weak transcription	Brain Germinal Matrix	brain
37	chr18:25545400-25555000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:25545400-25564800	Weak transcription	HUVEC	blood vessel
39	chr18:25545600-25554400	Weak transcription	Brain Anterior Caudate	brain
40	chr18:25545600-25554600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr18:25545600-25588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr18:25545800-25548000	Weak transcription	Liver	Liver
43	chr18:25546400-25548000	Enhancers	Fetal Heart	heart
44	chr18:25546600-25547200	Strong transcription	Left Ventricle	heart
45	chr18:25546800-25551400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:25547000-25547200	Genic enhancers	NH-A	brain
47	chr18:25547000-25547400	Weak transcription	Fetal Lung	lung
48	chr18:25547000-25547800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr18:25547000-25548600	Enhancers	Osteobl	bone

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