Variant report

Variant	rs17493423
Chromosome Location	chr18:25564751-25564752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11564318	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11564411	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1228420	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17493430	0.93[AFR][1000 genomes]
rs17493576	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17493744	0.88[EUR][1000 genomes]
rs17493926	1.00[CEU][hapmap]
rs17494136	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17522229	1.00[CEU][hapmap]
rs17522236	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17522285	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs17522436	0.94[EUR][1000 genomes]
rs17522569	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs488190	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs525524	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs635726	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8090262	1.00[CEU][hapmap];0.88[EUR][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
2	chr18:25536400-25578200	Weak transcription	Fetal Brain Male	brain
3	chr18:25536800-25574200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:25540800-25576400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:25542800-25574400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr18:25544400-25572400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:25545400-25564800	Weak transcription	HUVEC	blood vessel
8	chr18:25545600-25588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:25548800-25574600	Strong transcription	NH-A	brain
10	chr18:25549400-25574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:25549600-25572000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:25553000-25566200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:25553000-25593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:25554400-25571000	Strong transcription	Osteobl	bone
15	chr18:25555000-25571600	Weak transcription	HSMMtube	muscle
16	chr18:25555400-25565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:25555600-25574200	Weak transcription	Brain Anterior Caudate	brain
18	chr18:25556200-25574600	Weak transcription	Brain Angular Gyrus	brain
19	chr18:25556200-25586800	Weak transcription	Spleen	Spleen
20	chr18:25556200-25592800	Weak transcription	Aorta	Aorta
21	chr18:25556200-25595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:25556400-25569600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:25556400-25576400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:25556400-25584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:25557200-25575000	Weak transcription	Gastric	stomach
26	chr18:25558000-25571200	Weak transcription	Fetal Intestine Large	intestine
27	chr18:25558800-25583600	Weak transcription	Right Ventricle	heart
28	chr18:25559400-25566200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr18:25559400-25574400	Strong transcription	Liver	Liver
30	chr18:25559800-25564800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:25561800-25565000	Strong transcription	Dnd41	blood
32	chr18:25561800-25567600	Strong transcription	Fetal Brain Female	brain
33	chr18:25561800-25574000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:25562800-25574000	Strong transcription	HSMM	muscle
35	chr18:25563200-25565200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr18:25563200-25565200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr18:25563200-25565800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:25563200-25566400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:25563200-25568400	Strong transcription	Left Ventricle	heart
40	chr18:25563400-25564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr18:25563600-25565000	Strong transcription	Fetal Heart	heart
42	chr18:25564000-25566400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:25564200-25566200	Strong transcription	Brain Germinal Matrix	brain
44	chr18:25564400-25564800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr18:25564400-25564800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr18:25564400-25565000	Genic enhancers	Brain Hippocampus Middle	brain
47	chr18:25564400-25565000	Strong transcription	A549	lung
48	chr18:25564400-25565200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr18:25564400-25565400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr18:25564400-25567200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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