Variant report

Variant	rs12289747
Chromosome Location	chr11:10607005-10607006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10604416..10607231-chr11:10624844..10627462,2	K562	blood:
2	chr11:10599184..10602109-chr11:10604361..10607201,2	K562	blood:
3	chr11:10562158..10565041-chr11:10605864..10609739,3	K562	blood:
4	chr11:10606583..10608638-chr11:10609831..10611876,2	K562	blood:
5	chr11:10603161..10605514-chr11:10605788..10607951,2	K562	blood:

Variant related genes	Relation type
ENSG00000177112	Chromatin interaction
ENSG00000110315	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11042886	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11827743	0.81[EUR][1000 genomes]
rs12285938	1.00[EUR][1000 genomes]
rs16907981	0.81[EUR][1000 genomes]
rs16907986	0.81[EUR][1000 genomes]
rs28526173	1.00[EUR][1000 genomes]
rs56245730	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57197678	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101571	0.81[EUR][1000 genomes]
rs7948666	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10580600-10609800	Weak transcription	Thymus	Thymus
2	chr11:10586400-10620400	Weak transcription	Brain Anterior Caudate	brain
3	chr11:10590600-10611200	Weak transcription	Pancreas	Pancrea
4	chr11:10590800-10608200	Weak transcription	NHDF-Ad	bronchial
5	chr11:10592000-10608000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:10592400-10622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:10595000-10629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:10595000-10632800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:10595400-10615400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:10595800-10608400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:10597200-10625800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:10598000-10608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:10600400-10608000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:10601200-10611800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:10601400-10608200	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:10602800-10608200	Weak transcription	NHLF	lung
17	chr11:10602800-10611400	Enhancers	K562	blood
18	chr11:10603000-10609600	Weak transcription	Brain Substantia Nigra	brain
19	chr11:10603200-10613200	Weak transcription	Fetal Intestine Large	intestine
20	chr11:10603600-10607600	Weak transcription	Lung	lung
21	chr11:10603600-10608000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:10603600-10608000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:10603600-10608200	Weak transcription	HMEC	breast
24	chr11:10603600-10614800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:10603600-10614800	Weak transcription	Fetal Intestine Small	intestine
26	chr11:10603600-10621800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:10604000-10608200	Weak transcription	HSMMtube	muscle
28	chr11:10604400-10607200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:10604800-10607400	Enhancers	Fetal Lung	lung
30	chr11:10605000-10608000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:10605200-10609400	Enhancers	Ovary	ovary
32	chr11:10605200-10620400	Weak transcription	Fetal Thymus	thymus
33	chr11:10605600-10609600	Weak transcription	Primary B cells from cord blood	blood
34	chr11:10605800-10607200	Weak transcription	Placenta	Placenta
35	chr11:10605800-10607600	Weak transcription	Right Ventricle	heart
36	chr11:10605800-10608200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:10605800-10608200	Weak transcription	Right Atrium	heart
38	chr11:10605800-10608200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:10605800-10608200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:10605800-10608400	Weak transcription	Esophagus	oesophagus
41	chr11:10605800-10608400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:10605800-10608800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:10605800-10610200	Weak transcription	Colonic Mucosa	Colon
44	chr11:10605800-10611200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:10605800-10611400	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:10605800-10613400	Weak transcription	Psoas Muscle	Psoas
47	chr11:10605800-10614000	Weak transcription	Gastric	stomach
48	chr11:10605800-10622200	Weak transcription	Spleen	Spleen
49	chr11:10606000-10607600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:10606000-10607600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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