Variant report

Variant	rs1375445
Chromosome Location	chr18:29156999-29157000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11081702	0.99[EUR][1000 genomes]
rs11659687	0.98[EUR][1000 genomes]
rs11662311	0.96[EUR][1000 genomes]
rs11664321	0.82[EUR][1000 genomes]
rs1375446	0.84[EUR][1000 genomes]
rs1473342	0.90[EUR][1000 genomes]
rs1667237	0.84[EUR][1000 genomes]
rs1667239	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667244	0.89[GIH][hapmap];0.81[EUR][1000 genomes]
rs1667254	0.89[EUR][1000 genomes]
rs1667257	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17660933	0.99[EUR][1000 genomes]
rs1791200	0.89[EUR][1000 genomes]
rs2034404	0.99[EUR][1000 genomes]
rs2420813	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2704058	0.84[EUR][1000 genomes]
rs3764476	0.91[CEU][hapmap];0.80[CHB][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs3764479	0.91[CEU][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs3794884	0.91[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs4799579	0.98[EUR][1000 genomes]
rs4799581	0.81[EUR][1000 genomes]
rs6506932	0.82[EUR][1000 genomes]
rs7235277	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs723744	0.91[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7238749	0.96[EUR][1000 genomes]
rs7243588	0.81[EUR][1000 genomes]
rs735329	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv576636	chr18:29146822-29190174	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1066881	chr18:29149752-29180840	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1375445	AQP4	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29151600-29157600	Enhancers	Fetal Intestine Large	intestine
2	chr18:29152000-29157400	Enhancers	HepG2	liver
3	chr18:29153600-29161400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr18:29154800-29161000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:29156000-29157000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:29156000-29157200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr18:29156200-29157200	Enhancers	Primary hematopoietic stem cells	blood
8	chr18:29156200-29157400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:29156200-29161600	Weak transcription	NHEK	skin
10	chr18:29156400-29163200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:29156600-29157000	Enhancers	Thymus	Thymus
12	chr18:29156600-29157200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr18:29156600-29157800	Enhancers	GM12878-XiMat	blood
14	chr18:29156600-29158600	Enhancers	Liver	Liver
15	chr18:29156800-29157000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr18:29156800-29157400	Enhancers	Fetal Intestine Small	intestine

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