Variant report

Variant	rs10056132
Chromosome Location	chr5:146831553-146831554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10079318	0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705171	0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4705172	0.97[EUR][1000 genomes]
rs7713047	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7725771	0.83[CEU][hapmap];0.86[GIH][hapmap];0.93[LWK][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs7732327	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs995976	1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10056132	PRELID2	cis	cerebellum	SCAN
rs10056132	ABLIM3	cis	parietal	SCAN
rs10056132	DPYSL3	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
3	chr5:146817200-146831800	Weak transcription	Esophagus	oesophagus
4	chr5:146819200-146831600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:146819200-146831600	Weak transcription	Spleen	Spleen
6	chr5:146823200-146831800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:146826600-146831800	Weak transcription	Lung	lung
8	chr5:146826600-146832000	Weak transcription	Fetal Heart	heart
9	chr5:146826600-146832000	Weak transcription	Psoas Muscle	Psoas
10	chr5:146827000-146831600	Weak transcription	Brain Substantia Nigra	brain
11	chr5:146828600-146831600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:146829000-146831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:146829200-146831600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:146829200-146832000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:146829400-146832200	Weak transcription	HSMMtube	muscle
16	chr5:146829800-146831600	Active TSS	Fetal Brain Female	brain
17	chr5:146830200-146831600	Active TSS	Brain Germinal Matrix	brain
18	chr5:146830400-146831600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:146830400-146832400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr5:146830400-146834200	Active TSS	Fetal Brain Male	brain
21	chr5:146830600-146831600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:146830600-146831600	Active TSS	NH-A	brain
23	chr5:146830600-146834000	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr5:146830800-146831600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:146830800-146831600	Enhancers	Fetal Muscle Leg	muscle
26	chr5:146830800-146831800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:146830800-146832200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:146830800-146832200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr5:146830800-146832600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:146830800-146834200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:146831000-146831600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr5:146831000-146831600	Active TSS	Brain Hippocampus Middle	brain
33	chr5:146831000-146831600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:146831000-146831600	Active TSS	NHLF	lung
35	chr5:146831000-146831800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr5:146831000-146832800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:146831000-146834400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:146831000-146835000	Active TSS	Aorta	Aorta
39	chr5:146831200-146831600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr5:146831200-146831600	Enhancers	Brain Anterior Caudate	brain
41	chr5:146831200-146832400	Active TSS	Brain Angular Gyrus	brain
42	chr5:146831200-146834000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr5:146831200-146834200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr5:146831200-146834200	Active TSS	Ovary	ovary
45	chr5:146831200-146834200	Active TSS	Rectal Smooth Muscle	rectum
46	chr5:146831200-146835000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr5:146831200-146835400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr5:146831400-146831600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:146831400-146831600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:146831400-146831600	Active TSS	HUES64 Cell Line	embryonic stem cell

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