Variant report

Variant	rs550104762
Chromosome Location	chr2:48625284-48625285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48620898..48623309-chr2:48624782..48626327,2	K562	blood:
2	chr2:48617829..48620871-chr2:48622412..48626412,3	K562	blood:

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	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv518718	chr2:48624007-48650308	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48619400-48625400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:48623200-48625600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:48623600-48625400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:48623600-48626800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:48623600-48626800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:48623600-48626800	Weak transcription	Fetal Intestine Small	intestine
7	chr2:48623800-48626600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:48624400-48626200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:48624400-48626200	Enhancers	Fetal Lung	lung
10	chr2:48624600-48626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:48624600-48626000	Enhancers	Adipose Nuclei	Adipose
12	chr2:48624600-48626000	Enhancers	Fetal Heart	heart
13	chr2:48624600-48627800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:48624800-48626400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr2:48625000-48625400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:48625000-48625400	Active TSS	Brain Germinal Matrix	brain
17	chr2:48625000-48625400	Enhancers	K562	blood
18	chr2:48625000-48625600	Active TSS	Brain Angular Gyrus	brain
19	chr2:48625000-48625800	Active TSS	Brain Hippocampus Middle	brain
20	chr2:48625000-48625800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:48625000-48625800	Active TSS	Brain Substantia Nigra	brain
22	chr2:48625000-48625800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr2:48625000-48626000	Flanking Active TSS	Fetal Brain Male	brain
24	chr2:48625000-48626000	Active TSS	Fetal Brain Female	brain
25	chr2:48625200-48625600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:48625200-48625600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr2:48625200-48625600	Enhancers	A549	lung
28	chr2:48625200-48625800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:48625200-48625800	Active TSS	Brain Anterior Caudate	brain
30	chr2:48625200-48625800	Active TSS	Brain Cingulate Gyrus	brain
31	chr2:48625200-48625800	Active TSS	NH-A	brain
32	chr2:48625200-48626200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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