Variant report

Variant	rs11819755
Chromosome Location	chr11:87143041-87143042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17150004	1.00[EUR][1000 genomes]
rs17150015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17150018	1.00[EUR][1000 genomes]
rs17759556	0.94[EUR][1000 genomes]
rs73537908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73537911	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73537917	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73537923	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv555714	chr11:87058981-87399218	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1039172	chr11:87068731-87385458	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11819755	SSBP2	trans	lymphoblastoid	seeQTL
rs11819755	TRAF5	trans	lymphoblastoid	seeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87137000-87147000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:87137800-87143200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:87138800-87144400	Enhancers	NHDF-Ad	bronchial
4	chr11:87139600-87144600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:87141600-87144000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:87141600-87144000	Enhancers	Osteobl	bone
7	chr11:87141600-87144400	Enhancers	HSMMtube	muscle
8	chr11:87141600-87145400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:87141800-87143200	Enhancers	Fetal Muscle Leg	muscle
10	chr11:87141800-87144000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:87141800-87144000	Enhancers	Ovary	ovary
12	chr11:87141800-87145800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:87141800-87145800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:87142000-87144000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:87142400-87143200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:87142400-87143200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:87142400-87144000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:87142400-87144000	Enhancers	HSMM	muscle
19	chr11:87142400-87145800	Enhancers	NHLF	lung
20	chr11:87142600-87143200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:87142800-87143200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:87142800-87143400	Enhancers	Fetal Stomach	stomach
23	chr11:87142800-87143600	Enhancers	Aorta	Aorta
24	chr11:87142800-87143600	Enhancers	NH-A	brain
25	chr11:87142800-87147600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:87142800-87150800	Weak transcription	Right Atrium	heart
27	chr11:87143000-87143200	Enhancers	Adipose Nuclei	Adipose
28	chr11:87143000-87143200	Enhancers	Colon Smooth Muscle	Colon
29	chr11:87143000-87143600	Enhancers	Fetal Lung	lung
30	chr11:87143000-87143800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:87143000-87144000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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