Variant report

Variant	rs12099370
Chromosome Location	chr11:72678997-72678998
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1025411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732893	1.00[EUR][1000 genomes]
rs10736788	1.00[EUR][1000 genomes]
rs10736789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736791	1.00[EUR][1000 genomes]
rs10751219	1.00[EUR][1000 genomes]
rs10898888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10898892	1.00[EUR][1000 genomes]
rs11235608	1.00[EUR][1000 genomes]
rs11824394	1.00[EUR][1000 genomes]
rs1380574	1.00[EUR][1000 genomes]
rs1380575	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2060072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2365906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3903492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4373969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4594026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944015	0.91[EUR][1000 genomes]
rs4944019	1.00[EUR][1000 genomes]
rs4944814	1.00[EUR][1000 genomes]
rs4944817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55787543	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55838097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55888199	1.00[EUR][1000 genomes]
rs56133665	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56154220	1.00[EUR][1000 genomes]
rs56283764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56316448	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57731198	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58192366	1.00[EUR][1000 genomes]
rs59925945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60219481	1.00[EUR][1000 genomes]
rs60812177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60877622	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61424140	0.85[AFR][1000 genomes]
rs6592494	1.00[EUR][1000 genomes]
rs6592495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592502	1.00[EUR][1000 genomes]
rs7102424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7107817	1.00[EUR][1000 genomes]
rs7115321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117786	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7118144	1.00[EUR][1000 genomes]
rs7122566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7130559	1.00[EUR][1000 genomes]
rs72984941	0.83[EUR][1000 genomes]
rs72984946	1.00[EUR][1000 genomes]
rs72984947	1.00[EUR][1000 genomes]
rs72984948	1.00[EUR][1000 genomes]
rs7395081	1.00[EUR][1000 genomes]
rs7930535	1.00[EUR][1000 genomes]
rs7946019	1.00[EUR][1000 genomes]
rs7951614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs898384	1.00[EUR][1000 genomes]
rs975261	1.00[EUR][1000 genomes]
rs994305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72633000-72680000	Weak transcription	Dnd41	blood
2	chr11:72633000-72684000	Weak transcription	Primary T cells from cord blood	blood
3	chr11:72633400-72679400	Weak transcription	Fetal Thymus	thymus
4	chr11:72636200-72694800	Weak transcription	Adipose Nuclei	Adipose
5	chr11:72636400-72680200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:72641800-72680200	Weak transcription	HSMMtube	muscle
9	chr11:72647200-72680800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
11	chr11:72649600-72681600	Weak transcription	Aorta	Aorta
12	chr11:72649800-72679400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:72651400-72696600	Weak transcription	Brain Anterior Caudate	brain
14	chr11:72651600-72680400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:72651600-72680600	Weak transcription	Fetal Stomach	stomach
16	chr11:72651800-72680800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:72653400-72681800	Weak transcription	Pancreas	Pancrea
18	chr11:72662200-72680800	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:72662600-72680800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:72663200-72682600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:72663200-72683600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:72663400-72679400	Weak transcription	NHDF-Ad	bronchial
23	chr11:72665200-72681800	Weak transcription	Fetal Intestine Large	intestine
24	chr11:72665400-72681800	Weak transcription	Fetal Intestine Small	intestine
25	chr11:72666200-72689600	Weak transcription	Esophagus	oesophagus
26	chr11:72666600-72680400	Weak transcription	Ovary	ovary
27	chr11:72666600-72721600	Weak transcription	Lung	lung
28	chr11:72667000-72700600	Weak transcription	Brain Angular Gyrus	brain
29	chr11:72667200-72681600	Weak transcription	Right Atrium	heart
30	chr11:72667200-72681800	Weak transcription	Right Ventricle	heart
31	chr11:72669400-72689600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:72669600-72680600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:72669800-72680200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:72669800-72684800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:72669800-72721800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:72671000-72689400	Weak transcription	Fetal Lung	lung
37	chr11:72671200-72687400	Weak transcription	Fetal Brain Female	brain
38	chr11:72671600-72680200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:72672000-72679600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:72672000-72682600	Weak transcription	Small Intestine	intestine
41	chr11:72673000-72708000	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:72673400-72680800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:72673400-72680800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:72673600-72680200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:72674000-72679400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:72674000-72680000	Weak transcription	Osteobl	bone
47	chr11:72674000-72681200	Strong transcription	Primary B cells from cord blood	blood
48	chr11:72674600-72687200	Weak transcription	Placenta	Placenta
49	chr11:72675000-72680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:72675000-72681600	Weak transcription	Primary T cells fromperipheralblood	blood

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