Variant report

Variant	rs2306786
Chromosome Location	chr15:59487930-59487931
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59474900..59477474-chr15:59486434..59489003,2	K562	blood:
2	chr15:59487827..59489393-chr15:59490801..59493761,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11632378	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11637519	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854052	1.00[JPT][hapmap]
rs11854099	0.94[GIH][hapmap];1.00[JPT][hapmap]
rs11857218	1.00[JPT][hapmap]
rs12442723	0.83[GIH][hapmap]
rs12591296	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916831	0.85[ASN][1000 genomes]
rs1872742	0.85[ASN][1000 genomes]
rs1967063	1.00[ASN][1000 genomes]
rs2087123	1.00[JPT][hapmap]
rs2101394	1.00[JPT][hapmap]
rs3816814	0.81[GIH][hapmap]
rs41505445	0.87[GIH][hapmap]
rs7165001	0.90[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs8036783	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8040100	0.94[GIH][hapmap];1.00[JPT][hapmap]
rs923242	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Metabolite levels	22916037	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2306786	AQP9	cis	cerebellum	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59464400-59496800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:59467800-59523200	Weak transcription	Fetal Brain Female	brain
3	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
4	chr15:59468600-59521400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr15:59468800-59490800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr15:59468800-59492600	Strong transcription	Fetal Intestine Large	intestine
7	chr15:59475200-59503200	Strong transcription	Liver	Liver
8	chr15:59475800-59498200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr15:59475800-59517800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:59476000-59488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:59476200-59490600	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr15:59477000-59498000	Strong transcription	GM12878-XiMat	blood
13	chr15:59479400-59488200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:59479600-59488400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:59480200-59492400	Weak transcription	Fetal Heart	heart
16	chr15:59480200-59499200	Weak transcription	Fetal Lung	lung
17	chr15:59480200-59507200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:59480600-59496400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:59480600-59507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr15:59481000-59492000	Strong transcription	Fetal Intestine Small	intestine
21	chr15:59481400-59496000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:59481600-59488600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:59482200-59488000	Strong transcription	Gastric	stomach
24	chr15:59482800-59499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:59483200-59514000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:59484000-59488000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:59484200-59499400	Weak transcription	Fetal Kidney	kidney
28	chr15:59484600-59488000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:59484600-59488800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:59484800-59489600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:59485000-59488200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr15:59485000-59488600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr15:59485200-59488400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:59485200-59488600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr15:59485200-59489600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:59485200-59491000	Strong transcription	HSMMtube	muscle
37	chr15:59485200-59492200	Strong transcription	Hela-S3	cervix
38	chr15:59485200-59492200	Strong transcription	HSMM	muscle
39	chr15:59485400-59489200	Strong transcription	NHDF-Ad	bronchial
40	chr15:59485400-59489600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:59485400-59490400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:59485400-59515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:59485600-59492000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:59485600-59492400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:59485600-59492600	Strong transcription	NHEK	skin
46	chr15:59485600-59505800	Weak transcription	Brain Germinal Matrix	brain
47	chr15:59485600-59521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:59485800-59489800	Strong transcription	A549	lung
49	chr15:59485800-59490600	Strong transcription	HMEC	breast
50	chr15:59485800-59490600	Strong transcription	HUVEC	blood vessel

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