Variant report

Variant	rs12435259
Chromosome Location	chr14:33162819-33162820
allele	C/T
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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11622177	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11624857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12432071	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12437036	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437429	0.81[CEU][hapmap]
rs12882674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17099467	0.81[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs34123429	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35412801	0.83[AMR][1000 genomes]
rs66481544	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66721154	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67365238	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7148406	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9788584	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]
rs9788585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[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
rs12435259	NUBPL	cis	cerebellum	SCAN

Chromatin state (count:41 , 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	chr14:33144400-33165200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:33145800-33171800	Weak transcription	Aorta	Aorta
5	chr14:33151800-33164400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:33151800-33171200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:33152000-33171000	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:33159400-33171000	Weak transcription	Fetal Heart	heart
9	chr14:33160400-33163400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:33160600-33165600	Weak transcription	Fetal Brain Female	brain
11	chr14:33161000-33163200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:33161800-33163000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:33161800-33163000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:33161800-33164600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:33162000-33163000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr14:33162000-33163000	Enhancers	HSMM	muscle
17	chr14:33162200-33163000	Flanking Active TSS	NH-A	brain
18	chr14:33162200-33163200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:33162200-33163400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:33162200-33163600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:33162200-33163800	Enhancers	Brain Anterior Caudate	brain
22	chr14:33162400-33163000	Enhancers	NHDF-Ad	bronchial
23	chr14:33162400-33163400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:33162400-33167000	Weak transcription	Pancreas	Pancrea
25	chr14:33162600-33164000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:33162600-33164200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:33162600-33164200	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:33162600-33164400	Weak transcription	HSMMtube	muscle
29	chr14:33162600-33166800	Weak transcription	Brain Angular Gyrus	brain
30	chr14:33162600-33167000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:33162600-33171600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:33162800-33165000	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:33162800-33165200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:33162800-33166600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:33162800-33166600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:33162800-33166600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:33162800-33166600	Weak transcription	Osteobl	bone
38	chr14:33162800-33166800	Weak transcription	HMEC	breast
39	chr14:33162800-33166800	Weak transcription	NHLF	lung
40	chr14:33162800-33168200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:33162800-33171000	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links