Variant report

Variant	rs11564299
Chromosome Location	chr18:25760028-25760029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10853682	1.00[JPT][hapmap]
rs11083249	1.00[JPT][hapmap]
rs11083250	1.00[JPT][hapmap]
rs11083252	0.90[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564310	1.00[JPT][hapmap]
rs11564336	1.00[JPT][hapmap]
rs11564341	1.00[JPT][hapmap]
rs11564381	1.00[JPT][hapmap]
rs11661487	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11872284	1.00[JPT][hapmap]
rs11874384	1.00[JPT][hapmap]
rs11874478	0.90[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185349	1.00[JPT][hapmap]
rs12454164	1.00[JPT][hapmap]
rs12457737	1.00[JPT][hapmap]
rs12457781	1.00[JPT][hapmap]
rs12458418	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12953509	1.00[JPT][hapmap]
rs12956036	1.00[JPT][hapmap]
rs12959867	1.00[JPT][hapmap]
rs12960181	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443449	1.00[JPT][hapmap]
rs17446505	1.00[JPT][hapmap]
rs17446547	1.00[JPT][hapmap]
rs17446875	0.90[CEU][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468924	1.00[JPT][hapmap]
rs17469001	1.00[JPT][hapmap]
rs17469371	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17469385	1.00[YRI][hapmap]
rs17536472	1.00[JPT][hapmap]
rs1860642	1.00[JPT][hapmap]
rs1944288	0.90[CEU][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067772	1.00[JPT][hapmap]
rs2191636	0.90[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4800289	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4800842	1.00[JPT][hapmap]
rs6508526	0.90[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719723	1.00[JPT][hapmap]
rs7243759	0.90[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089347	1.00[JPT][hapmap]
rs8091862	0.90[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095341	1.00[JPT][hapmap]

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	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	nsv9622	chr18:25749905-26032816	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11564299	AQP4	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25756600-25760800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:25758600-25763800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:25758800-25762400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:25758800-25763200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:25758800-25763600	Weak transcription	Liver	Liver
6	chr18:25758800-25763600	Weak transcription	HepG2	liver
7	chr18:25758800-25763600	Weak transcription	HSMMtube	muscle
8	chr18:25759000-25763200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:25759000-25763600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:25759000-25763600	Weak transcription	HUVEC	blood vessel
11	chr18:25759000-25766000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:25759200-25760200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:25759200-25760200	Enhancers	NH-A	brain
14	chr18:25759200-25761000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:25759200-25761800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr18:25759200-25762600	Weak transcription	Osteobl	bone
17	chr18:25759200-25763200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr18:25759200-25763600	Weak transcription	Right Ventricle	heart
19	chr18:25759200-25765800	Weak transcription	Right Atrium	heart
20	chr18:25759200-25778000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:25759400-25760200	Enhancers	Fetal Heart	heart
22	chr18:25759400-25763800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr18:25759600-25760400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr18:25759600-25760400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr18:25759600-25761000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr18:25759600-25761600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:25760000-25760200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:25760000-25760200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr18:25760000-25761600	Weak transcription	A549	lung

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