Variant report

Variant	rs11582566
Chromosome Location	chr1:166904145-166904146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166897470..166899365-chr1:166901895..166904377,3	K562	blood:
2	chr1:166897470..166899679-chr1:166901895..166904408,3	K562	blood:
3	chr1:166903011..166904959-chr1:166907854..166909717,2	K562	blood:
4	chr1:166902983..166904959-chr1:166908217..166910309,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1053407	0.95[EUR][1000 genomes]
rs10800269	0.84[GIH][hapmap]
rs10800271	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10800273	0.82[AMR][1000 genomes]
rs10800275	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10918586	0.82[GIH][hapmap]
rs12029367	0.87[GIH][hapmap]
rs1476350	0.87[GIH][hapmap]
rs2013526	0.96[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2014854	0.96[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2072741	0.81[CEU][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2075981	0.89[TSI][hapmap];0.91[YRI][hapmap]
rs2075982	0.81[CEU][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2272793	0.87[GIH][hapmap]
rs2312238	0.96[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2837	0.92[EUR][1000 genomes]
rs393025	0.81[AMR][1000 genomes]
rs402031	0.83[AMR][1000 genomes]
rs453395	0.84[AMR][1000 genomes]
rs4657614	0.92[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs6427038	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6427046	0.97[EUR][1000 genomes]
rs6675033	0.85[GIH][hapmap]
rs6675750	0.85[GIH][hapmap]
rs6688277	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6690192	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6691431	0.87[GIH][hapmap]
rs6718	0.84[GIH][hapmap]
rs7531189	0.87[GIH][hapmap]
rs7532247	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7548191	0.85[GIH][hapmap]
rs7552562	0.96[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs926266	0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.84[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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11582566	DUTP6	cis	Artery Aorta	GTEx
rs11582566	ANKRD36BP1	cis	parietal	SCAN
rs11582566	TBX19	cis	cerebellum	SCAN
rs11582566	MAEL	cis	Esophagus Muscularis	GTEx
rs11582566	DUSP12	cis	cerebellum	SCAN
rs11582566	MAEL	cis	lymphoblastoid	seeQTL
rs11582566	MAEL	cis	Nerve Tibial	GTEx
rs11582566	DUTP6	cis	Esophagus Muscularis	GTEx
rs11582566	MAEL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166880800-166909600	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:166890400-166906600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:166890800-166904400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:166890800-166907400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:166890800-166907600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:166891000-166916400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:166892000-166913800	Weak transcription	Thymus	Thymus
8	chr1:166892800-166904600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:166895800-166906600	Weak transcription	Right Ventricle	heart
10	chr1:166896200-166904600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:166896400-166904200	Weak transcription	Dnd41	blood
12	chr1:166896400-166910400	Weak transcription	Left Ventricle	heart
13	chr1:166897000-166905600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:166897600-166906000	Weak transcription	Fetal Heart	heart
15	chr1:166899600-166913000	Weak transcription	Brain Germinal Matrix	brain
16	chr1:166900400-166908600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:166900800-166913600	Weak transcription	GM12878-XiMat	blood
18	chr1:166901600-166906000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:166902400-166904200	Enhancers	HSMMtube	muscle
20	chr1:166902400-166904400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:166903600-166906800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:166903800-166904200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:166903800-166904400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:166903800-166904400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:166903800-166905000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:166904000-166904200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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