Variant report

Variant	rs200929803
Chromosome Location	chr18:45460796-45460797
allele	-/CTTGAGCAG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45458331..45460939-chr18:45561622..45564314,2	K562	blood:
2	chr18:45456285..45458398-chr18:45460688..45463962,5	MCF-7	breast:
3	chr18:45423330..45425218-chr18:45460389..45462320,2	K562	blood:
4	chr18:45300220..45301757-chr18:45459466..45461739,2	MCF-7	breast:
5	chr18:45459837..45461431-chr18:45533159..45534772,2	MCF-7	breast:

Variant related genes	Relation type
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:32 , 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	chr18:45458400-45461000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:45458400-45461800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:45458400-45463200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:45458400-45463400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:45458600-45462000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr18:45458600-45462000	Weak transcription	Brain Hippocampus Middle	brain
8	chr18:45458600-45462200	Weak transcription	Brain Angular Gyrus	brain
9	chr18:45458600-45462200	Weak transcription	Brain Anterior Caudate	brain
10	chr18:45458600-45463200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr18:45458600-45463400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr18:45458800-45461000	Enhancers	Hela-S3	cervix
13	chr18:45458800-45461600	Weak transcription	Brain Substantia Nigra	brain
14	chr18:45458800-45461800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr18:45458800-45463400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:45458800-45463600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr18:45459000-45462400	Weak transcription	Primary T cells from cord blood	blood
18	chr18:45459000-45463200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr18:45459000-45464800	Weak transcription	Pancreas	Pancrea
20	chr18:45459400-45462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:45459600-45460800	Weak transcription	Gastric	stomach
22	chr18:45459600-45462200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr18:45459600-45462200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr18:45459600-45471600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:45459800-45462200	Weak transcription	Fetal Thymus	thymus
26	chr18:45459800-45463000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr18:45459800-45463200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr18:45459800-45464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:45459800-45464600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:45460400-45462600	Weak transcription	Thymus	Thymus
31	chr18:45460600-45461800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr18:45460600-45462200	Weak transcription	Dnd41	blood

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