Variant report

Variant	rs8098920
Chromosome Location	chr18:25502001-25502002
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	chr18:25500768..25503277-chr18:25517793..25519720,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12970159	0.84[EUR][1000 genomes]
rs34709288	0.84[EUR][1000 genomes]
rs8086799	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv909479	chr18:25398940-25502001	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv458038	chr18:25437752-25508399	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv576590	chr18:25437752-25508399	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1066584	chr18:25439826-25508399	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv909480	chr18:25440258-25502001	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8098920	AQP4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25500400-25503800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:25500600-25502200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:25500600-25502800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:25500800-25503200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:25501000-25502600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:25501200-25502400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr18:25501200-25502600	Flanking Active TSS	NH-A	brain
8	chr18:25501200-25502800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:25501200-25503200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr18:25501200-25503600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:25501400-25502200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:25501400-25502400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:25501400-25502400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:25501400-25502400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:25501400-25502400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:25501400-25502400	Active TSS	Brain Anterior Caudate	brain
17	chr18:25501400-25502400	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr18:25501400-25502400	Flanking Active TSS	NHEK	skin
19	chr18:25501400-25502600	Enhancers	Placenta	Placenta
20	chr18:25501400-25502800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr18:25501400-25502800	Enhancers	HSMMtube	muscle
22	chr18:25501400-25503000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr18:25501400-25503200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:25501400-25503200	Enhancers	Brain Cingulate Gyrus	brain
25	chr18:25501400-25503200	Enhancers	Fetal Brain Male	brain
26	chr18:25501600-25502200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr18:25501600-25502400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr18:25501600-25502400	Flanking Active TSS	Fetal Brain Female	brain
29	chr18:25501600-25502400	Enhancers	Osteobl	bone
30	chr18:25501600-25502600	Enhancers	HMEC	breast
31	chr18:25501800-25502200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:25501800-25502200	Enhancers	Fetal Muscle Trunk	muscle
33	chr18:25501800-25502200	Active TSS	A549	lung
34	chr18:25501800-25502400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr18:25501800-25502400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:25501800-25502400	Active TSS	Hela-S3	cervix
37	chr18:25501800-25503000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr18:25502000-25502200	Active TSS	HepG2	liver
39	chr18:25502000-25502400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr18:25502000-25502600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:25502000-25502600	Enhancers	HSMM	muscle
42	chr18:25502000-25502800	Enhancers	Brain Hippocampus Middle	brain
43	chr18:25502000-25502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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