Variant report

Variant	rs10130459
Chromosome Location	chr14:33105732-33105733
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33104661..33106240-chr14:33107373..33109760,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10135053	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10138218	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10141225	0.84[CEU][hapmap]
rs1033678	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625087	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12717222	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12896132	0.88[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.81[ASN][1000 genomes]
rs1884618	0.94[ASN][1000 genomes]
rs1956202	0.83[AMR][1000 genomes]
rs1956203	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1956219	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3784203	0.85[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4981992	0.93[GIH][hapmap]
rs4981993	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4981995	0.88[CHB][hapmap];0.82[JPT][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571540	0.86[GIH][hapmap]
rs6571547	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6571548	1.00[CHB][hapmap];0.93[GIH][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7146517	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7152044	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153048	0.89[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7154753	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7156763	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157328	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7157533	0.96[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7157744	0.92[ASW][hapmap];0.96[CEU][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7160156	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs927060	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10130459	C19orf56	trans	cerebellum	SCAN
rs10130459	NUBPL	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33099200-33120400	Weak transcription	Fetal Muscle Leg	muscle
2	chr14:33101800-33107600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:33102600-33107800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:33102800-33107000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:33103200-33106800	Weak transcription	Left Ventricle	heart
6	chr14:33103200-33107800	Enhancers	Fetal Heart	heart
7	chr14:33103200-33114600	Weak transcription	Aorta	Aorta
8	chr14:33104200-33105800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:33104200-33106200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:33104600-33120400	Weak transcription	HSMMtube	muscle
11	chr14:33104800-33105800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:33104800-33106000	Weak transcription	Right Atrium	heart
13	chr14:33104800-33107000	Weak transcription	NH-A	brain
14	chr14:33104800-33107200	Weak transcription	Osteobl	bone
15	chr14:33104800-33116400	Weak transcription	Brain Substantia Nigra	brain
16	chr14:33105000-33106800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:33105000-33117000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:33105000-33117200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:33105200-33107000	Weak transcription	Brain Anterior Caudate	brain
20	chr14:33105200-33116000	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:33105200-33116400	Weak transcription	Brain Angular Gyrus	brain
22	chr14:33105400-33105800	Weak transcription	NHDF-Ad	bronchial
23	chr14:33105400-33106200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:33105600-33106000	Weak transcription	Liver	Liver
25	chr14:33105600-33106800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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