Variant report

Variant	rs10484269
Chromosome Location	chr6:13201963-13201964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1150599	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1150600	0.85[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs11760186	0.82[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs1232378	0.86[ASN][1000 genomes]
rs3864313	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3864314	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3864315	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3886292	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3916163	0.82[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs3932443	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3932444	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4262187	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4280960	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55760854	0.81[AMR][1000 genomes]
rs56797484	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73725622	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73725623	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7746506	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9349503	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9367373	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9369918	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs9381820	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9395526	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9395527	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10484269	AQP1	trans	brain	seeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13178800-13217400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:13182000-13205400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:13182000-13211800	Weak transcription	Fetal Brain Female	brain
4	chr6:13182000-13212000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
6	chr6:13183000-13207000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:13184000-13220800	Weak transcription	Brain Germinal Matrix	brain
8	chr6:13185000-13202800	Weak transcription	Brain Anterior Caudate	brain
9	chr6:13185200-13204000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:13185200-13205200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:13185400-13204800	Weak transcription	Lung	lung
12	chr6:13185400-13205800	Weak transcription	Aorta	Aorta
13	chr6:13185400-13205800	Weak transcription	Pancreas	Pancrea
14	chr6:13187400-13217400	Weak transcription	Right Atrium	heart
15	chr6:13191200-13204400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:13191800-13210800	Weak transcription	Fetal Heart	heart
17	chr6:13192000-13205600	Weak transcription	Right Ventricle	heart
18	chr6:13192400-13216800	Weak transcription	Fetal Intestine Small	intestine
19	chr6:13193400-13205400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:13195600-13205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:13195800-13206200	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:13195800-13207400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:13197600-13203200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:13197800-13204600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:13198400-13205200	Weak transcription	Left Ventricle	heart
26	chr6:13198800-13206800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:13201200-13202000	Bivalent Enhancer	K562	blood
28	chr6:13201400-13216200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:13201600-13206000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:13201600-13209000	Weak transcription	Ovary	ovary
31	chr6:13201600-13215600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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