Variant report

Variant	rs147583992
Chromosome Location	chr11:65917642-65917643
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr11:65917518-65918048	GM12878	blood:	n/a	chr11:65917863-65917877 chr11:65917735-65917746 chr11:65917808-65917829 chr11:65917861-65917882 chr11:65917733-65917747

Variant related genes	Relation type
ENSG00000238763	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	esv1809358	chr11:65916558-65935189	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65901000-65919400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:65905200-65947000	Weak transcription	Fetal Lung	lung
3	chr11:65905400-65939600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:65905800-65924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:65905800-65952800	Weak transcription	Fetal Stomach	stomach
6	chr11:65906000-65960200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:65910000-65939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:65910400-65918600	Weak transcription	HSMMtube	muscle
9	chr11:65910400-65927000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:65910600-65939600	Weak transcription	NHDF-Ad	bronchial
11	chr11:65911000-65918800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:65911000-65924400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:65911000-65924400	Weak transcription	NHEK	skin
14	chr11:65911000-65924600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:65911000-65939400	Weak transcription	NH-A	brain
16	chr11:65911000-65943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:65912800-65924400	Weak transcription	A549	lung
18	chr11:65913000-65918800	Weak transcription	Small Intestine	intestine
19	chr11:65913200-65918400	Weak transcription	Right Atrium	heart
20	chr11:65913200-65918800	Weak transcription	Left Ventricle	heart
21	chr11:65913200-65927000	Weak transcription	Right Ventricle	heart
22	chr11:65913200-65927200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:65913400-65924400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:65913400-65924400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:65913400-65929800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:65913400-65951000	Weak transcription	Spleen	Spleen
27	chr11:65913800-65917800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:65914000-65924400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:65914200-65917800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:65914200-65939600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:65914400-65919800	Weak transcription	Primary T cells from cord blood	blood
32	chr11:65914600-65918200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:65914600-65918800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:65914600-65919800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:65914600-65929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:65914800-65927000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:65915800-65917800	Enhancers	GM12878-XiMat	blood
38	chr11:65916800-65917800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:65917000-65918400	Enhancers	Primary hematopoietic stem cells	blood
40	chr11:65917000-65918600	Enhancers	Osteobl	bone
41	chr11:65917400-65917800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:65917400-65917800	Active TSS	NHLF	lung
43	chr11:65917400-65918000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:65917400-65918000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:65917400-65918000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:65917400-65918800	Enhancers	Adipose Nuclei	Adipose
47	chr11:65917600-65917800	Enhancers	HSMM	muscle
48	chr11:65917600-65918000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:65917600-65918000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:65917600-65918000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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