Variant report

Variant	rs9788584
Chromosome Location	chr14:33167393-33167394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11156755	0.95[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11622177	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11624857	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625040	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12432071	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432183	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12435259	0.95[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437429	0.86[CEU][hapmap]
rs12882674	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17099467	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs34123429	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35412801	0.85[AMR][1000 genomes]
rs66481544	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66721154	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67365238	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7148406	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9788585	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription 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	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9788584	NUBPL	cis	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33135000-33171800	Weak transcription	Psoas Muscle	Psoas
2	chr14:33141800-33169200	Weak transcription	Left Ventricle	heart
3	chr14:33145800-33171800	Weak transcription	Aorta	Aorta
4	chr14:33151800-33171200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:33152000-33171000	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:33159400-33171000	Weak transcription	Fetal Heart	heart
7	chr14:33162600-33171600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:33162800-33168200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:33162800-33171000	Weak transcription	Brain Substantia Nigra	brain
10	chr14:33163000-33171600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:33163400-33171800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:33163800-33167400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:33164000-33169600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:33164200-33167600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:33164600-33171800	Weak transcription	Fetal Intestine Small	intestine
16	chr14:33165400-33171800	Weak transcription	HSMMtube	muscle
17	chr14:33165800-33167600	Enhancers	HSMM	muscle
18	chr14:33165800-33168600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:33165800-33169000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:33165800-33171200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:33165800-33171800	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:33166000-33168200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:33166000-33168200	Enhancers	NHDF-Ad	bronchial
24	chr14:33166000-33168600	Enhancers	NH-A	brain
25	chr14:33166200-33171000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:33166200-33172200	Weak transcription	Fetal Brain Female	brain
27	chr14:33166400-33167800	Enhancers	Brain Hippocampus Middle	brain
28	chr14:33166600-33167400	Enhancers	HUVEC	blood vessel
29	chr14:33166600-33167800	Enhancers	Osteobl	bone
30	chr14:33166600-33168000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:33166600-33170200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr14:33166800-33167400	Enhancers	NHLF	lung
33	chr14:33166800-33167600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr14:33166800-33167800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:33166800-33168000	Enhancers	NHEK	skin
36	chr14:33166800-33168200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:33166800-33168200	Enhancers	HMEC	breast
38	chr14:33166800-33168400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:33166800-33172000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:33167000-33167400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:33167000-33167400	Weak transcription	Brain Angular Gyrus	brain
42	chr14:33167000-33167600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:33167000-33168800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:33167000-33169200	Weak transcription	Brain Anterior Caudate	brain
45	chr14:33167000-33171200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:33167200-33167400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr14:33167200-33167400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:33167200-33171400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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