Variant report

Variant	rs12276332
Chromosome Location	chr11:87067649-87067650
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	chr11:87063292..87065568-chr11:87066607..87068698,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10047408	1.00[AMR][1000 genomes]
rs11235098	1.00[AMR][1000 genomes]
rs11235103	1.00[AMR][1000 genomes]
rs11235113	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235114	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235115	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235116	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270666	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275018	1.00[AMR][1000 genomes]
rs12282494	1.00[AMR][1000 genomes]
rs12287172	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287886	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288952	1.00[AMR][1000 genomes]
rs12295935	1.00[AMR][1000 genomes]
rs17150123	1.00[AMR][1000 genomes]
rs3897610	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804477	1.00[AMR][1000 genomes]
rs9804479	1.00[AMR][1000 genomes]
rs9804554	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87048400-87095400	Weak transcription	Aorta	Aorta
2	chr11:87063200-87068400	Enhancers	Fetal Lung	lung
3	chr11:87063800-87068600	Enhancers	Fetal Muscle Leg	muscle
4	chr11:87064200-87079800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:87064400-87071000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:87064600-87068200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:87064800-87069800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:87065600-87077800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:87066000-87067800	Enhancers	Ovary	ovary
10	chr11:87066200-87068400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr11:87066600-87068000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:87066800-87068200	Enhancers	Fetal Muscle Trunk	muscle
13	chr11:87067000-87073200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:87067200-87067800	Enhancers	Right Atrium	heart
15	chr11:87067200-87079200	Weak transcription	Adipose Nuclei	Adipose
16	chr11:87067400-87067800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr11:87067400-87067800	Enhancers	Left Ventricle	heart
18	chr11:87067400-87068000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:87067400-87068200	Enhancers	Fetal Stomach	stomach
20	chr11:87067400-87068200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:87067400-87068200	Enhancers	Spleen	Spleen
22	chr11:87067400-87068800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:87067600-87067800	Enhancers	Colonic Mucosa	Colon

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