Variant report

Variant	rs550454328
Chromosome Location	chr12:49618892-49618893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49519485..49526890-chr12:49616239..49624332,15	K562	blood:
2	chr12:49617947..49619571-chr12:49625520..49628045,3	K562	blood:
3	chr12:49608287..49610880-chr12:49615814..49620950,5	K562	blood:
4	chr12:49617947..49619523-chr12:49625520..49627493,2	K562	blood:
5	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
6	chr12:49617540..49619785-chr12:49657644..49659586,2	K562	blood:

Variant related genes	Relation type
ENSG00000123416	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000258101	Chromatin interaction

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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv518041	chr12:49618043-49645240	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49610200-49625800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:49612200-49620200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:49615200-49625600	Weak transcription	Placenta	Placenta
4	chr12:49616400-49619800	Enhancers	Brain Hippocampus Middle	brain
5	chr12:49616600-49619000	Weak transcription	K562	blood
6	chr12:49616800-49619400	Weak transcription	A549	lung
7	chr12:49616800-49621000	Weak transcription	Fetal Brain Female	brain
8	chr12:49616800-49624400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:49616800-49625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:49616800-49626000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:49617000-49619400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:49617000-49619400	Weak transcription	NHEK	skin
13	chr12:49617000-49619600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:49617000-49619600	Weak transcription	Fetal Thymus	thymus
15	chr12:49617000-49624000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:49617200-49619400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:49617200-49619400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:49617200-49619400	Weak transcription	Osteobl	bone
19	chr12:49617200-49619600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:49617200-49620000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:49617400-49619400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:49617400-49619600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:49617600-49619400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:49617600-49620800	Weak transcription	Fetal Brain Male	brain
25	chr12:49617600-49625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:49617600-49625800	Weak transcription	NHDF-Ad	bronchial
27	chr12:49617600-49626000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:49617800-49619000	Weak transcription	NHLF	lung
29	chr12:49617800-49619400	Weak transcription	HSMM	muscle
30	chr12:49617800-49620800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:49617800-49621400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:49617800-49621400	Weak transcription	Brain Angular Gyrus	brain
33	chr12:49617800-49621400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:49617800-49621400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:49618000-49619400	Weak transcription	Brain Substantia Nigra	brain
36	chr12:49618000-49620600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:49618000-49621400	Weak transcription	Brain Anterior Caudate	brain
38	chr12:49618400-49619200	Enhancers	Primary B cells from cord blood	blood
39	chr12:49618400-49619400	Weak transcription	HSMMtube	muscle
40	chr12:49618400-49619400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:49618400-49621000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:49618400-49621400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:49618600-49619400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:49618600-49621000	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:49618800-49619200	Weak transcription	Spleen	Spleen

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