Variant report

Variant	rs11874478
Chromosome Location	chr18:25751637-25751638
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10853682	1.00[JPT][hapmap]
rs11083249	1.00[JPT][hapmap]
rs11083250	1.00[JPT][hapmap]
rs11083252	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564299	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]
rs11564310	1.00[JPT][hapmap]
rs11564336	1.00[JPT][hapmap]
rs11564341	1.00[JPT][hapmap]
rs11564381	1.00[JPT][hapmap]
rs11661487	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11872284	1.00[JPT][hapmap]
rs11874384	1.00[JPT][hapmap]
rs12185349	1.00[JPT][hapmap]
rs12454164	1.00[JPT][hapmap]
rs12457737	1.00[JPT][hapmap]
rs12457781	1.00[JPT][hapmap]
rs12458418	0.83[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	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443449	1.00[JPT][hapmap]
rs17446505	1.00[JPT][hapmap]
rs17446547	1.00[JPT][hapmap]
rs17446875	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[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];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17495279	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs17536472	1.00[JPT][hapmap]
rs17536968	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs1860642	1.00[JPT][hapmap]
rs1944288	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067772	1.00[JPT][hapmap]
rs2191636	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4800289	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4800842	1.00[JPT][hapmap]
rs6508526	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508527	0.86[YRI][hapmap]
rs6508528	0.85[LWK][hapmap];0.84[MKK][hapmap]
rs719723	1.00[JPT][hapmap]
rs7243759	1.00[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089347	1.00[JPT][hapmap]
rs8091862	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[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
rs11874478	AQP4	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25717600-25753400	Weak transcription	Dnd41	blood
2	chr18:25728800-25754200	Weak transcription	HUVEC	blood vessel
3	chr18:25738800-25754200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:25739400-25751800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr18:25741200-25753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr18:25742400-25751800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:25742600-25751800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:25742600-25754200	Weak transcription	Brain Angular Gyrus	brain
9	chr18:25742800-25755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:25743400-25753200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:25744800-25754200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:25745000-25753800	Weak transcription	HSMM	muscle
13	chr18:25746600-25752000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr18:25747200-25753600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:25747400-25751800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr18:25747600-25753800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:25748000-25751800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr18:25748400-25752600	Weak transcription	Right Atrium	heart
19	chr18:25749000-25752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:25749000-25754000	Enhancers	HepG2	liver
21	chr18:25749200-25753400	Weak transcription	Osteobl	bone
22	chr18:25749800-25752000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr18:25749800-25759200	Active TSS	Right Ventricle	heart
24	chr18:25750000-25752600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:25750200-25752800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:25750200-25752800	Weak transcription	A549	lung
27	chr18:25750200-25754000	Weak transcription	Fetal Kidney	kidney
28	chr18:25750400-25751800	Weak transcription	Fetal Brain Female	brain
29	chr18:25751000-25751800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:25751200-25751800	Weak transcription	Left Ventricle	heart
31	chr18:25751200-25752200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:25751400-25753000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr18:25751600-25751800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr18:25751600-25751800	Strong transcription	NH-A	brain
35	chr18:25751600-25752000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr18:25751600-25752000	Enhancers	Brain Anterior Caudate	brain
37	chr18:25751600-25752000	Enhancers	Brain Hippocampus Middle	brain
38	chr18:25751600-25752000	Flanking Active TSS	Fetal Heart	heart
39	chr18:25751600-25752200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:25751600-25752200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr18:25751600-25752400	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr18:25751600-25752600	Enhancers	Liver	Liver
43	chr18:25751600-25753400	Enhancers	Fetal Brain Male	brain

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