Variant report

Variant	rs11048372
Chromosome Location	chr12:26156008-26156009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10842643	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10842644	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10842653	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11048360	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11048378	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11048379	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11048380	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11048381	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11048382	0.89[AMR][1000 genomes]
rs11048383	0.87[AMR][1000 genomes]
rs11048384	0.87[AMR][1000 genomes]
rs11048389	0.85[AMR][1000 genomes]
rs11048390	0.83[AMR][1000 genomes]
rs1120064	0.89[AMR][1000 genomes]
rs1149804	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11561207	0.89[AMR][1000 genomes]
rs12227689	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12812200	0.86[AMR][1000 genomes]
rs12812752	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12813641	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12818478	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12831248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1691889	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16929784	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16929817	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16929830	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16929846	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2055180	0.86[AMR][1000 genomes]
rs2132317	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2279680	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2343201	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2643941	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34294573	0.85[AMR][1000 genomes]
rs34595529	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35924984	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3803009	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61622173	0.87[AMR][1000 genomes]
rs6487525	0.83[AMR][1000 genomes]
rs706524	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs706526	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs706531	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs706532	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs706533	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs706538	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7132590	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7134721	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7298162	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7953171	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7963603	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7963856	0.85[AMR][1000 genomes]
rs829837	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs829987	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs853656	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
2	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:26146200-26163000	Weak transcription	Lung	lung
4	chr12:26148000-26163600	Weak transcription	Aorta	Aorta
5	chr12:26148200-26157000	Weak transcription	Psoas Muscle	Psoas
6	chr12:26150800-26159600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:26150800-26160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:26150800-26163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:26151000-26163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:26151200-26160000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:26151400-26160400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:26151400-26162000	Weak transcription	Hela-S3	cervix
13	chr12:26152200-26162800	Weak transcription	HSMM	muscle
14	chr12:26152600-26156200	Weak transcription	Osteobl	bone
15	chr12:26152800-26157400	Strong transcription	NHDF-Ad	bronchial
16	chr12:26154400-26156600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:26154600-26156600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:26154800-26156400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:26154800-26156400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:26154800-26157400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:26154800-26157800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:26154800-26163400	Weak transcription	HSMMtube	muscle
23	chr12:26155000-26159400	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:26155600-26156200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr12:26155600-26156200	ZNF genes & repeats	Fetal Lung	lung
26	chr12:26155600-26156400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:26155600-26156400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr12:26155600-26156400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr12:26155600-26156400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr12:26155600-26156400	ZNF genes & repeats	Ovary	ovary
31	chr12:26155600-26156400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
32	chr12:26155600-26156600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:26155600-26156600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:26155600-26156600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr12:26155600-26156600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:26155600-26156600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:26155600-26156600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr12:26155600-26156600	ZNF genes & repeats	NH-A	brain
39	chr12:26155800-26156400	ZNF genes & repeats	Fetal Heart	heart
40	chr12:26155800-26156600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:26155800-26159800	Weak transcription	Left Ventricle	heart
42	chr12:26155800-26163200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:26156000-26156400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr12:26156000-26156400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:26156000-26156400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:26156000-26156400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
47	chr12:26156000-26156400	ZNF genes & repeats	Brain Anterior Caudate	brain
48	chr12:26156000-26156400	ZNF genes & repeats	Fetal Intestine Large	intestine
49	chr12:26156000-26156600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr12:26156000-26159600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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