Variant report

Variant	rs4753080
Chromosome Location	chr11:92876766-92876767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10765590	0.93[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1446912	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs511086	0.83[AMR][1000 genomes]
rs516151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs542075	0.83[AMR][1000 genomes]
rs551866	0.83[AMR][1000 genomes]
rs612070	0.83[AMR][1000 genomes]
rs643214	0.83[AMR][1000 genomes]
rs6483225	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs687645	0.83[AMR][1000 genomes]
rs7925273	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7928274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv555903	chr11:92640787-92877533	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv555904	chr11:92640787-92881933	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv525304	chr11:92829904-92877533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv435	chr11:92853766-92887893	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3407782	chr11:92869004-92876852	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4753080	MEST	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92862800-92880400	Weak transcription	Aorta	Aorta
2	chr11:92866600-92880000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:92867200-92896400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:92868000-92889000	Weak transcription	Adipose Nuclei	Adipose
5	chr11:92868400-92880000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:92868400-92914600	Weak transcription	Brain Substantia Nigra	brain
7	chr11:92874000-92880400	Weak transcription	NH-A	brain
8	chr11:92875000-92878400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:92875000-92892800	Weak transcription	Primary B cells from cord blood	blood
10	chr11:92875400-92910400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:92875800-92880200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:92876000-92879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:92876200-92877800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:92876400-92876800	Enhancers	GM12878-XiMat	blood
15	chr11:92876400-92877000	Enhancers	Osteobl	bone
16	chr11:92876400-92877200	Enhancers	HSMM	muscle
17	chr11:92876400-92877400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:92876400-92896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:92876600-92877000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:92876600-92877800	Enhancers	NHLF	lung
21	chr11:92876600-92880400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:92876600-92883800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:92876600-92885000	Weak transcription	Fetal Lung	lung
24	chr11:92876600-92885200	Weak transcription	Primary T cells from cord blood	blood
25	chr11:92876600-92900400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:92876600-92910600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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