Variant report

Variant	rs7940468
Chromosome Location	chr11:46993472-46993473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10838638	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11039048	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11488791	1.00[AMR][1000 genomes]
rs12224831	0.90[AMR][1000 genomes]
rs12273333	1.00[AMR][1000 genomes]
rs12274845	0.89[AMR][1000 genomes]
rs12280455	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290283	0.83[AMR][1000 genomes]
rs12291377	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2035067	0.90[AMR][1000 genomes]
rs4752814	0.90[AMR][1000 genomes]
rs57683872	0.89[AMR][1000 genomes]
rs59520560	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60741480	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485713	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485718	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117243	0.89[AMR][1000 genomes]
rs7117590	0.89[AMR][1000 genomes]
rs7123059	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73462027	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7935192	0.89[AMR][1000 genomes]
rs7944021	0.89[AMR][1000 genomes]
rs7945052	0.89[AMR][1000 genomes]
rs9804415	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971621	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1805201	chr11:46971012-47063429	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1819852	chr11:46971012-47064542	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 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	chr11:46959000-46998600	Weak transcription	Left Ventricle	heart
2	chr11:46959200-46993800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:46971600-46995600	Weak transcription	Pancreas	Pancrea
4	chr11:46971600-47006600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:46974200-46998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:46974200-47008400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:46980400-46998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:46980400-46998600	Weak transcription	Thymus	Thymus
9	chr11:46980600-46995400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:46980600-46995400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:46980600-46995400	Weak transcription	Fetal Stomach	stomach
12	chr11:46980600-46998600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:46980600-46999600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:46980600-47014000	Weak transcription	Aorta	Aorta
15	chr11:46980600-47021000	Weak transcription	Ovary	ovary
16	chr11:46980600-47026000	Weak transcription	HSMM	muscle
17	chr11:46981200-47023400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:46981400-46997400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:46982600-46997000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:46982800-46998400	Weak transcription	Fetal Brain Female	brain
21	chr11:46983000-46993800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:46983000-46997000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:46983000-47024000	Weak transcription	Primary B cells from cord blood	blood
24	chr11:46983400-46998600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:46984000-46997000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:46985000-46997400	Weak transcription	GM12878-XiMat	blood
27	chr11:46986400-46993800	Weak transcription	Fetal Intestine Small	intestine
28	chr11:46986600-46994800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:46986600-46995600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:46986600-46997400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:46988400-46995000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:46988600-46997800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:46989200-47026000	Weak transcription	Dnd41	blood
34	chr11:46989800-46998400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:46991200-46997600	Weak transcription	Brain Angular Gyrus	brain
36	chr11:46991200-46997600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:46991400-46997400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:46991600-46993800	Weak transcription	Brain Substantia Nigra	brain
39	chr11:46991600-46997000	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:46992400-46994200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:46992600-46998600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:46992800-46994200	Weak transcription	Hela-S3	cervix
43	chr11:46993200-46994000	Enhancers	Colonic Mucosa	Colon
44	chr11:46993200-46994000	Enhancers	Small Intestine	intestine
45	chr11:46993200-46994200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:46993200-46994400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:46993200-46995400	Enhancers	Fetal Lung	lung
48	chr11:46993400-46993600	Enhancers	Fetal Muscle Trunk	muscle
49	chr11:46993400-46993800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:46993400-46994400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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