Variant report

Variant	rs12282166
Chromosome Location	chr11:102246466-102246467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102244499..102247382-chr11:102322403..102324021,2	K562	blood:
2	chr11:102244673..102246560-chr11:102251384..102254189,2	K562	blood:
3	chr11:102246464..102249796-chr11:102259406..102262797,3	K562	blood:
4	chr11:102218092..102221862-chr11:102245057..102248069,3	K562	blood:

Variant related genes	Relation type
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11225228	0.84[AFR][1000 genomes]
rs12273819	0.84[AFR][1000 genomes]
rs12281328	0.84[AFR][1000 genomes]
rs12283923	0.84[AFR][1000 genomes]
rs12288938	0.84[AFR][1000 genomes]
rs12291210	0.84[AFR][1000 genomes]
rs36039928	0.84[AFR][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	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
2	chr11:102225600-102255400	Weak transcription	Fetal Heart	heart
3	chr11:102232400-102259600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:102232600-102255000	Weak transcription	Right Atrium	heart
5	chr11:102235600-102255000	Weak transcription	Right Ventricle	heart
6	chr11:102235800-102259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:102236600-102249800	Weak transcription	Psoas Muscle	Psoas
8	chr11:102236600-102249800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:102237000-102248600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:102237000-102249600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:102237000-102255400	Weak transcription	Aorta	Aorta
12	chr11:102237000-102263800	Weak transcription	Small Intestine	intestine
13	chr11:102237200-102249200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:102237200-102249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:102237600-102249600	Weak transcription	Colonic Mucosa	Colon
16	chr11:102239400-102248400	Weak transcription	Primary T cells from cord blood	blood
17	chr11:102239600-102248200	Weak transcription	Fetal Brain Female	brain
18	chr11:102239600-102248800	Weak transcription	NHLF	lung
19	chr11:102239600-102249600	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:102239600-102249600	Weak transcription	Ovary	ovary
21	chr11:102239600-102250200	Weak transcription	Fetal Kidney	kidney
22	chr11:102239600-102259000	Weak transcription	Fetal Brain Male	brain
23	chr11:102239800-102246600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:102239800-102246600	Weak transcription	Adipose Nuclei	Adipose
25	chr11:102239800-102246600	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:102239800-102247400	Weak transcription	Primary B cells from cord blood	blood
27	chr11:102239800-102247400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:102239800-102247400	Weak transcription	HMEC	breast
29	chr11:102239800-102247400	Weak transcription	NHDF-Ad	bronchial
30	chr11:102239800-102247600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:102239800-102247600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:102239800-102247600	Weak transcription	GM12878-XiMat	blood
33	chr11:102239800-102247600	Weak transcription	HepG2	liver
34	chr11:102239800-102247600	Weak transcription	HUVEC	blood vessel
35	chr11:102239800-102247600	Weak transcription	NHEK	skin
36	chr11:102239800-102248200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:102239800-102248600	Weak transcription	NH-A	brain
38	chr11:102239800-102249600	Weak transcription	Brain Germinal Matrix	brain
39	chr11:102239800-102249600	Weak transcription	HSMMtube	muscle
40	chr11:102239800-102250000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:102239800-102250000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:102239800-102254600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:102240000-102247600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:102240000-102250200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:102245000-102247000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr11:102245400-102247000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:102245400-102278000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:102245600-102246600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:102245600-102246800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:102245600-102246800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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