Variant report

Variant	rs184767503
Chromosome Location	chr12:64216048-64216049
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv976635	chr12:64215811-64218681	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64215200-64216400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:64215200-64216400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr12:64215200-64216600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:64215400-64216200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:64215400-64216200	Active TSS	Brain Hippocampus Middle	brain
6	chr12:64215400-64216200	Active TSS	Colon Smooth Muscle	Colon
7	chr12:64215400-64216200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr12:64215400-64216200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
9	chr12:64215400-64216200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
10	chr12:64215400-64216200	Active TSS	Fetal Kidney	kidney
11	chr12:64215400-64216200	Active TSS	Ovary	ovary
12	chr12:64215400-64216200	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:64215400-64216400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:64215400-64216400	Active TSS	Brain Anterior Caudate	brain
15	chr12:64215400-64216400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:64215400-64216400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:64215400-64216400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:64215400-64216400	Active TSS	Stomach Smooth Muscle	stomach
19	chr12:64215400-64216400	Active TSS	NHLF	lung
20	chr12:64215400-64216600	Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:64215400-64216600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:64215400-64216800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:64215400-64216800	Active TSS	Brain Substantia Nigra	brain
24	chr12:64215600-64216200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:64215600-64216200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr12:64215600-64216200	Active TSS	Brain Angular Gyrus	brain
27	chr12:64215600-64216200	Active TSS	Brain Cingulate Gyrus	brain
28	chr12:64215600-64216200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr12:64215600-64216200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:64215600-64216200	Active TSS	Fetal Lung	lung
31	chr12:64215600-64216200	Active TSS	Placenta	Placenta
32	chr12:64215600-64216200	Active TSS	Fetal Thymus	thymus
33	chr12:64215600-64216200	Active TSS	NHDF-Ad	bronchial
34	chr12:64215600-64216600	Active TSS	Duodenum Mucosa	Duodenum
35	chr12:64215600-64216600	Flanking Active TSS	HMEC	breast
36	chr12:64215800-64216200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:64215800-64216200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:64215800-64216200	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr12:64215800-64216200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr12:64215800-64216200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr12:64215800-64216400	Flanking Active TSS	NH-A	brain
42	chr12:64216000-64216200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr12:64216000-64216200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:64216000-64216200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:64216000-64216200	Weak transcription	Liver	Liver
46	chr12:64216000-64216200	Active TSS	Fetal Muscle Trunk	muscle
47	chr12:64216000-64216200	Flanking Active TSS	Fetal Stomach	stomach
48	chr12:64216000-64216200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:64216000-64216200	Flanking Active TSS	HSMMtube	muscle
50	chr12:64216000-64216200	Active TSS	HUVEC	blood vessel

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