Variant report

Variant	rs4529952
Chromosome Location	chr12:4005725-4005726
allele	C/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	CEBPB	chr12:4005616-4005836	A549	lung:	n/a	chr12:4005670-4005683 chr12:4005672-4005681 chr12:4005672-4005681 chr12:4005672-4005681 chr12:4005672-4005683 chr12:4005672-4005681

Variant related genes	Relation type
ENSG00000256862	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468981	chr12:3685763-4098508	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv557116	chr12:3685763-4098508	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv832313	chr12:3798728-4015939	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv430447	chr12:3857650-4008969	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv832316	chr12:3981184-4180381	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr12:3995000-4006000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:3998600-4005800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:4000000-4005800	Enhancers	Primary T cells from cord blood	blood
4	chr12:4000000-4006000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:4000000-4006200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:4000000-4010200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:4000200-4005800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:4000200-4006000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:4000400-4005800	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:4000400-4005800	Weak transcription	HSMM	muscle
11	chr12:4001000-4006000	Weak transcription	Fetal Intestine Small	intestine
12	chr12:4002000-4006000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:4002200-4005800	Weak transcription	Thymus	Thymus
14	chr12:4002600-4005800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:4003200-4005800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:4003600-4008800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:4003600-4010000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:4003800-4007200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:4004000-4006200	Enhancers	HSMMtube	muscle
20	chr12:4004400-4008000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:4004600-4010000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:4004800-4007400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:4004800-4007800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:4004800-4009000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:4005000-4006400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:4005000-4006400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr12:4005000-4007000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:4005000-4007000	Enhancers	Brain Germinal Matrix	brain
29	chr12:4005000-4007000	Enhancers	Placenta	Placenta
30	chr12:4005200-4006200	Enhancers	Small Intestine	intestine
31	chr12:4005200-4006600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:4005200-4007000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:4005400-4006000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:4005400-4006000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:4005400-4006600	Enhancers	Fetal Lung	lung
36	chr12:4005400-4006800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:4005400-4006800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:4005400-4007000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:4005400-4007200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:4005400-4007600	Enhancers	Dnd41	blood
41	chr12:4005400-4007800	Enhancers	Fetal Thymus	thymus
42	chr12:4005600-4006800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:4005600-4007000	Enhancers	Brain Hippocampus Middle	brain
44	chr12:4005600-4008400	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:4005600-4008400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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