Variant report

Variant	rs543221815
Chromosome Location	chr18:45461400-45461401
allele	G/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	POLR2A	chr18:45461275-45461402	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:45456285..45458398-chr18:45460688..45463962,5	MCF-7	breast:
2	chr18:45423330..45425218-chr18:45460389..45462320,2	K562	blood:
3	chr18:45300220..45301757-chr18:45459466..45461739,2	MCF-7	breast:
4	chr18:45459837..45461431-chr18:45533159..45534772,2	MCF-7	breast:

Variant related genes	Relation type
SMAD2	TF binding region
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv909615	chr18:45452321-45493026	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3358262	chr18:45460344-45464204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45458200-45463400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:45458400-45461800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:45458400-45463200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr18:45458400-45463400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:45458600-45462000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr18:45458600-45462000	Weak transcription	Brain Hippocampus Middle	brain
7	chr18:45458600-45462200	Weak transcription	Brain Angular Gyrus	brain
8	chr18:45458600-45462200	Weak transcription	Brain Anterior Caudate	brain
9	chr18:45458600-45463200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr18:45458600-45463400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr18:45458800-45461600	Weak transcription	Brain Substantia Nigra	brain
12	chr18:45458800-45461800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:45458800-45463400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr18:45458800-45463600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr18:45459000-45462400	Weak transcription	Primary T cells from cord blood	blood
16	chr18:45459000-45463200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr18:45459000-45464800	Weak transcription	Pancreas	Pancrea
18	chr18:45459400-45462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:45459600-45462200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr18:45459600-45462200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:45459600-45471600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:45459800-45462200	Weak transcription	Fetal Thymus	thymus
23	chr18:45459800-45463000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr18:45459800-45463200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr18:45459800-45464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:45459800-45464600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:45460400-45462600	Weak transcription	Thymus	Thymus
28	chr18:45460600-45461800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr18:45460600-45462200	Weak transcription	Dnd41	blood
30	chr18:45461000-45463200	Weak transcription	Hela-S3	cervix
31	chr18:45461000-45463600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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