Variant report

Variant	rs11023723
Chromosome Location	chr11:15821547-15821548
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	chr11:15820342..15822081-chr11:15829638..15831480,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12270603	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12273213	0.96[EUR][1000 genomes]
rs16932069	0.96[EUR][1000 genomes]
rs60252948	0.96[EUR][1000 genomes]
rs7103208	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7103463	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7113987	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72860617	0.92[EUR][1000 genomes]
rs72860632	0.96[EUR][1000 genomes]
rs72860635	0.96[EUR][1000 genomes]
rs72860641	0.96[EUR][1000 genomes]
rs72860643	0.96[EUR][1000 genomes]
rs72860650	0.96[EUR][1000 genomes]
rs72860659	1.00[EUR][1000 genomes]
rs72860660	1.00[EUR][1000 genomes]
rs7930573	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051187	chr11:15781277-15846536	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1037145	chr11:15818508-15830938	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11023723	PNMAL1	trans	lymphoblastoid	seeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15813800-15828800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:15816400-15821600	Weak transcription	HSMM	muscle
3	chr11:15817200-15821600	Weak transcription	Right Ventricle	heart
4	chr11:15820200-15821600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:15820600-15821600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:15821000-15821800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr11:15821000-15822400	Enhancers	Adipose Nuclei	Adipose
8	chr11:15821000-15823200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:15821200-15821600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:15821200-15821600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:15821200-15821800	Enhancers	Osteobl	bone
12	chr11:15821200-15822600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr11:15821400-15821600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:15821400-15821600	Enhancers	HSMMtube	muscle
15	chr11:15821400-15821600	Enhancers	NHLF	lung
16	chr11:15821400-15821800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:15821400-15822000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:15821400-15822000	Enhancers	Stomach Mucosa	stomach
19	chr11:15821400-15822200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr11:15821400-15822200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:15821400-15822400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:15821400-15822400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:15821400-15822600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:15821400-15822600	Enhancers	HMEC	breast
25	chr11:15821400-15822600	Enhancers	NHEK	skin
26	chr11:15821400-15823800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr11:15821400-15824000	Enhancers	NH-A	brain

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