Variant report

Variant	rs559128826
Chromosome Location	chr2:54952446-54952447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3362527	chr2:54951248-54953146	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54949800-54952600	Active TSS	Psoas Muscle	Psoas
2	chr2:54949800-54952800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:54950000-54952600	Active TSS	Right Atrium	heart
4	chr2:54950000-54952600	Active TSS	Right Ventricle	heart
5	chr2:54950000-54953400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:54950200-54952600	Active TSS	Brain Hippocampus Middle	brain
7	chr2:54950200-54952600	Active TSS	Brain Substantia Nigra	brain
8	chr2:54950200-54952600	Active TSS	NHLF	lung
9	chr2:54950200-54953200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:54950200-54953400	Active TSS	Brain Cingulate Gyrus	brain
11	chr2:54950200-54953600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:54950200-54954400	Active TSS	Brain Angular Gyrus	brain
13	chr2:54950400-54954000	Active TSS	Fetal Brain Female	brain
14	chr2:54950800-54952800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:54950800-54953000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:54951000-54952600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:54951000-54952800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr2:54951000-54952800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:54951000-54953000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:54951200-54952600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:54951200-54952600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
22	chr2:54951200-54952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr2:54951400-54952600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:54951400-54952600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:54951400-54952600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:54951400-54952600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:54951400-54952600	Flanking Bivalent TSS/Enh	Thymus	Thymus
28	chr2:54951600-54952600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:54951600-54952600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:54951600-54952600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr2:54951600-54952600	Active TSS	HSMM	muscle
32	chr2:54951600-54952600	Active TSS	HSMMtube	muscle
33	chr2:54951600-54952800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:54951600-54952800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr2:54951600-54952800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr2:54951600-54952800	Bivalent/Poised TSS	NHEK	skin
37	chr2:54951800-54952600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr2:54951800-54952600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:54951800-54952600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
40	chr2:54951800-54952800	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr2:54951800-54953800	Weak transcription	Hela-S3	cervix
42	chr2:54952000-54952600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr2:54952000-54952600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:54952000-54952600	Enhancers	Fetal Brain Male	brain
45	chr2:54952000-54953200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr2:54952200-54952600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:54952200-54952600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
48	chr2:54952200-54952600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
49	chr2:54952200-54952600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:54952200-54952600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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