Variant report

Variant	rs557745120
Chromosome Location	chr12:123920751-123920752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123918432..123921016-chr12:123934034..123936294,2	K562	blood:
2	chr12:123866820..123869752-chr12:123919792..123923261,3	K562	blood:
3	chr12:123918384..123920794-chr12:123967775..123969543,2	K562	blood:
4	chr12:123919998..123924322-chr12:123941781..123944675,4	K562	blood:
5	chr12:123919731..123922838-chr12:123939726..123943639,4	MCF-7	breast:
6	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
7	chr12:123919342..123922431-chr12:123924734..123927863,4	MCF-7	breast:
8	chr12:123920716..123921258-chr19:59070757..59071505,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000183955	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000270445	Chromatin interaction
ENSG00000184209	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123916800-123920800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:123916800-123921000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
3	chr12:123916800-123921000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr12:123917200-123920800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:123917200-123921800	Active TSS	Aorta	Aorta
6	chr12:123918600-123921400	Active TSS	GM12878-XiMat	blood
7	chr12:123918800-123921600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:123919200-123921000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr12:123919400-123920800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr12:123919800-123920800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:123919800-123921000	Flanking Active TSS	Dnd41	blood
12	chr12:123919800-123921800	Active TSS	Fetal Kidney	kidney
13	chr12:123920000-123920800	Flanking Active TSS	Fetal Thymus	thymus
14	chr12:123920000-123920800	Flanking Active TSS	Thymus	Thymus
15	chr12:123920000-123920800	Flanking Active TSS	Hela-S3	cervix
16	chr12:123920000-123921000	Flanking Active TSS	Liver	Liver
17	chr12:123920000-123921000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:123920000-123921000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr12:123920000-123921200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:123920000-123921400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:123920000-123921600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:123920000-123921600	Active TSS	Ovary	ovary
23	chr12:123920000-123921800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:123920000-123921800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:123920000-123921800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:123920000-123921800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr12:123920000-123921800	Active TSS	HSMM	muscle
28	chr12:123920000-123921800	Active TSS	NHLF	lung
29	chr12:123920200-123920800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:123920200-123920800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:123920200-123920800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr12:123920200-123920800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr12:123920200-123921000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:123920200-123921000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr12:123920200-123921000	Flanking Active TSS	NH-A	brain
36	chr12:123920200-123921400	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr12:123920200-123921400	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:123920200-123921600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:123920200-123921600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:123920200-123921600	Active TSS	Brain Substantia Nigra	brain
41	chr12:123920200-123921600	Active TSS	Esophagus	oesophagus
42	chr12:123920200-123921800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr12:123920200-123921800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr12:123920200-123921800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:123920200-123921800	Flanking Active TSS	Placenta	Placenta
46	chr12:123920200-123921800	Active TSS	Right Ventricle	heart
47	chr12:123920400-123920800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr12:123920400-123920800	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr12:123920400-123920800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr12:123920400-123921000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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