Variant report

Variant	rs11038451
Chromosome Location	chr11:45433578-45433579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45427988..45430237-chr11:45431939..45433599,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10160472	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs10160502	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs10160694	0.90[EUR][1000 genomes]
rs10160834	0.90[EUR][1000 genomes]
rs10501315	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10838454	0.90[EUR][1000 genomes]
rs10838455	0.90[EUR][1000 genomes]
rs10838479	0.98[EUR][1000 genomes]
rs11038403	0.84[EUR][1000 genomes]
rs11038404	0.88[EUR][1000 genomes]
rs11038405	0.88[EUR][1000 genomes]
rs11038406	0.90[EUR][1000 genomes]
rs11038409	0.88[EUR][1000 genomes]
rs11038411	0.90[EUR][1000 genomes]
rs11038417	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11038420	0.90[EUR][1000 genomes]
rs11038423	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11038424	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11038426	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11038427	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11038429	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11038430	0.85[AMR][1000 genomes]
rs11038431	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038432	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038433	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038434	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038435	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038436	1.00[AMR][1000 genomes]
rs11038437	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038442	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038443	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038444	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038455	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038456	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038457	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038458	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038459	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038461	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038462	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038465	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038466	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038467	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038469	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038471	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038472	0.96[EUR][1000 genomes]
rs11038473	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038474	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038475	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038477	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038479	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038481	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038482	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038483	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038485	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038486	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038487	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038491	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11038492	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038493	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038494	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038495	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038496	0.98[EUR][1000 genomes]
rs11038497	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038498	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038510	0.85[EUR][1000 genomes]
rs11038515	0.89[EUR][1000 genomes]
rs11038516	0.89[EUR][1000 genomes]
rs11038518	0.89[EUR][1000 genomes]
rs11038520	0.89[EUR][1000 genomes]
rs11038522	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11038525	0.87[CEU][hapmap]
rs11038528	0.87[CEU][hapmap]
rs11038543	0.85[CEU][hapmap]
rs11038549	0.86[CEU][hapmap]
rs11038550	0.87[CEU][hapmap]
rs11038551	0.87[CEU][hapmap]
rs11038552	1.00[CEU][hapmap]
rs1107209	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11599949	0.88[EUR][1000 genomes]
rs11599993	0.88[EUR][1000 genomes]
rs11601006	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11601410	0.90[EUR][1000 genomes]
rs11604510	0.90[EUR][1000 genomes]
rs12278000	0.90[EUR][1000 genomes]
rs12360696	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12361372	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12363740	0.96[EUR][1000 genomes]
rs12364278	1.00[EUR][1000 genomes]
rs12364661	1.00[EUR][1000 genomes]
rs12365374	0.90[EUR][1000 genomes]
rs12365430	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12365455	0.90[EUR][1000 genomes]
rs12365467	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12365982	0.98[EUR][1000 genomes]
rs12366014	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1488668	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1488669	0.98[EUR][1000 genomes]
rs1488670	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17723819	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17724032	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17724086	0.98[EUR][1000 genomes]
rs17724240	0.87[CEU][hapmap];1.00[GIH][hapmap]
rs17785901	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17786039	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17786178	0.86[CEU][hapmap]
rs1844150	1.00[EUR][1000 genomes]
rs2044877	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72893316	0.91[EUR][1000 genomes]
rs72893332	0.87[EUR][1000 genomes]
rs72893337	0.87[EUR][1000 genomes]
rs72893356	0.89[EUR][1000 genomes]
rs72897413	0.90[EUR][1000 genomes]
rs72897414	0.90[EUR][1000 genomes]
rs72897422	0.90[EUR][1000 genomes]
rs72897428	0.90[EUR][1000 genomes]
rs72897458	0.90[EUR][1000 genomes]
rs72897475	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72899452	0.87[EUR][1000 genomes]
rs72899480	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72899488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901403	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901422	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901426	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901447	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901450	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901459	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901500	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903035	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903086	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903094	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72905021	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72905025	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72905092	0.98[EUR][1000 genomes]
rs72905093	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72906922	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72906947	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs971897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv306	chr11:45414044-45444431	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv996050	chr11:45426481-45436633	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv554187	chr11:45429381-45433578	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv511486	chr11:45429381-45438374	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv554192	chr11:45430297-45433578	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv1807375	chr11:45430401-45438374	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv1049520	chr11:45430802-45494235	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv541026	chr11:45430802-45494235	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11038451	PDGFD	trans	lymphoblastoid	seeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45430600-45435800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:45430800-45434800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:45431000-45433600	Enhancers	NH-A	brain
5	chr11:45431000-45434400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:45431000-45434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:45431200-45434400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:45431400-45434200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:45431600-45434000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:45431600-45434800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:45431600-45434800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:45431800-45433800	Enhancers	Brain Angular Gyrus	brain
13	chr11:45431800-45434000	Enhancers	Fetal Brain Male	brain
14	chr11:45431800-45434600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:45431800-45434600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr11:45432000-45433800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:45432000-45434000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:45432000-45434000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr11:45432000-45434000	Enhancers	HSMM	muscle
20	chr11:45432000-45434400	Bivalent Enhancer	Fetal Thymus	thymus
21	chr11:45432200-45434400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:45432400-45433800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:45432400-45434000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:45432600-45433800	Enhancers	Brain Anterior Caudate	brain
25	chr11:45432600-45434000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:45432600-45434000	Bivalent Enhancer	Fetal Stomach	stomach
27	chr11:45432800-45434200	Enhancers	Brain Germinal Matrix	brain
28	chr11:45432800-45434400	Enhancers	Fetal Brain Female	brain
29	chr11:45433000-45433600	Enhancers	HSMMtube	muscle
30	chr11:45433000-45433800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:45433000-45433800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
32	chr11:45433000-45433800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:45433000-45434000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:45433000-45434400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr11:45433200-45434000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:45433200-45434600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:45433200-45434800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr11:45433200-45435600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:45433400-45433600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:45433400-45433600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr11:45433400-45433600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr11:45433400-45433600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:45433400-45433600	Bivalent Enhancer	Fetal Lung	lung
44	chr11:45433400-45433800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:45433400-45433800	Flanking Active TSS	Osteobl	bone
46	chr11:45433400-45434000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:45433400-45434600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr11:45433400-45434800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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