Variant report

Variant	rs11627900
Chromosome Location	chr14:33100829-33100830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10129321	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135558	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139992	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140278	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10143113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10147330	0.86[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs10483411	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs10483412	0.82[JPT][hapmap]
rs10782379	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12433067	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12437429	0.81[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1569976	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1956201	0.85[CEU][hapmap]
rs1956220	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs7152377	0.81[CEU][hapmap]
rs7153041	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs7154943	0.81[CEU][hapmap]
rs7160301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016257	0.81[CEU][hapmap]
rs8021432	0.85[CEU][hapmap]
rs983766	0.84[CEU][hapmap]

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
rs11627900	NUBPL	cis	cerebellum	SCAN
rs11627900	PDSS1	trans	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:33078800-33102600	Weak transcription	Aorta	Aorta
3	chr14:33080000-33104200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:33089600-33102600	Weak transcription	Psoas Muscle	Psoas
5	chr14:33092400-33102800	Weak transcription	Right Ventricle	heart
6	chr14:33093200-33102800	Weak transcription	Left Ventricle	heart
7	chr14:33093200-33103600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:33093200-33104200	Weak transcription	HSMM	muscle
9	chr14:33093800-33104000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:33094000-33102400	Weak transcription	NHDF-Ad	bronchial
11	chr14:33096200-33102800	Weak transcription	HSMMtube	muscle
12	chr14:33096800-33102400	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:33096800-33105400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:33097200-33101800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:33097400-33101000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:33098000-33104200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:33098800-33102600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:33098800-33102600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:33098800-33104200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:33099200-33102400	Weak transcription	Brain Substantia Nigra	brain
21	chr14:33099200-33104800	Weak transcription	Brain Germinal Matrix	brain
22	chr14:33099200-33120400	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:33099400-33102400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:33100600-33101000	Enhancers	Fetal Heart	heart
25	chr14:33100800-33101000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr14:33100800-33101200	Enhancers	Brain Inferior Temporal Lobe	brain

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