Variant report

Variant	rs11083252
Chromosome Location	chr18:25726723-25726724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:25725957..25728565-chr18:25735891..25737665,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10853682	1.00[JPT][hapmap]
rs11083249	1.00[JPT][hapmap]
rs11083250	1.00[JPT][hapmap]
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];0.86[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	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11872284	1.00[JPT][hapmap]
rs11874384	1.00[JPT][hapmap]
rs11874478	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]
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];0.80[MEX][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];0.83[AMR][1000 genomes];0.98[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];0.86[AMR][1000 genomes];1.00[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];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17536472	1.00[JPT][hapmap]
rs1860642	1.00[JPT][hapmap]
rs1944288	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067772	1.00[JPT][hapmap]
rs2191636	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4800289	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4800842	1.00[JPT][hapmap]
rs6508526	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719723	1.00[JPT][hapmap]
rs7243759	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089347	1.00[JPT][hapmap]
rs8091862	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095341	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11083252	AQP4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25696200-25727800	Weak transcription	HSMMtube	muscle
2	chr18:25703800-25727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr18:25703800-25730000	Weak transcription	Aorta	Aorta
4	chr18:25705000-25727800	Weak transcription	Ovary	ovary
5	chr18:25705200-25727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:25709400-25727600	Weak transcription	A549	lung
7	chr18:25710200-25727600	Weak transcription	HepG2	liver
8	chr18:25710400-25727600	Weak transcription	Brain Anterior Caudate	brain
9	chr18:25710400-25727600	Weak transcription	Brain Substantia Nigra	brain
10	chr18:25710600-25727400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:25710600-25731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:25712600-25728400	Weak transcription	Right Ventricle	heart
13	chr18:25712600-25730000	Weak transcription	Left Ventricle	heart
14	chr18:25712800-25728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:25713000-25727400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:25714800-25727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:25716400-25727400	Weak transcription	HUVEC	blood vessel
18	chr18:25716800-25730400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:25717600-25727600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:25717600-25753400	Weak transcription	Dnd41	blood
21	chr18:25720800-25730000	Weak transcription	Fetal Kidney	kidney
22	chr18:25721400-25730000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:25722200-25727600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:25722600-25727000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:25724000-25727200	Enhancers	Brain Germinal Matrix	brain
26	chr18:25724000-25732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:25724000-25732800	Weak transcription	Gastric	stomach
28	chr18:25724200-25727800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:25725000-25729800	Enhancers	Fetal Heart	heart
30	chr18:25725000-25731600	Enhancers	Liver	Liver
31	chr18:25725400-25727400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:25725400-25727400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr18:25725600-25727200	Weak transcription	Osteobl	bone
34	chr18:25725600-25727600	Weak transcription	NH-A	brain
35	chr18:25725600-25731000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:25726000-25739200	Weak transcription	HSMM	muscle
37	chr18:25726000-25745400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr18:25726200-25726800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:25726400-25726800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr18:25726400-25727000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr18:25726400-25727000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr18:25726400-25727000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr18:25726400-25727200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr18:25726400-25728200	Enhancers	Fetal Brain Male	brain
45	chr18:25726600-25726800	Active TSS	Fetal Brain Female	brain
46	chr18:25726600-25727000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr18:25726600-25727000	Enhancers	Brain Angular Gyrus	brain
48	chr18:25726600-25727200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr18:25726600-25729200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links