Variant report

Variant	rs533216483
Chromosome Location	chr2:33704337-33704338
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33702588..33705548-chr2:33744716..33747266,2	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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33700800-33705600	Active TSS	GM12878-XiMat	blood
2	chr2:33701800-33704800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr2:33702000-33704400	Weak transcription	Gastric	stomach
4	chr2:33702200-33705600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:33702800-33704600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr2:33702800-33705400	Weak transcription	Placenta	Placenta
7	chr2:33702800-33705600	Enhancers	Fetal Muscle Leg	muscle
8	chr2:33702800-33707600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:33703000-33704600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:33703000-33704600	Bivalent Enhancer	HUVEC	blood vessel
11	chr2:33703000-33704800	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr2:33703000-33707400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:33703000-33707400	Weak transcription	HSMMtube	muscle
14	chr2:33703200-33704400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:33703200-33704400	Weak transcription	Lung	lung
16	chr2:33703200-33704600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:33703200-33705000	Active TSS	Duodenum Mucosa	Duodenum
18	chr2:33703200-33705600	Enhancers	Adipose Nuclei	Adipose
19	chr2:33703200-33705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:33703200-33707600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:33703200-33707600	Weak transcription	NHDF-Ad	bronchial
22	chr2:33703200-33708600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:33703200-33709200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:33703400-33704400	Enhancers	Brain Substantia Nigra	brain
25	chr2:33703400-33704400	Weak transcription	Pancreas	Pancrea
26	chr2:33703400-33704400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:33703400-33704400	Weak transcription	Right Atrium	heart
28	chr2:33703400-33704400	Weak transcription	Right Ventricle	heart
29	chr2:33703400-33705400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:33703400-33706000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:33703400-33706200	Enhancers	Brain Anterior Caudate	brain
32	chr2:33703400-33706200	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:33703600-33704400	Active TSS	Brain Hippocampus Middle	brain
34	chr2:33703600-33704800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:33703600-33705800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:33703600-33708800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:33703600-33711800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:33703600-33715600	Weak transcription	Spleen	Spleen
39	chr2:33703800-33704800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:33704000-33704400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:33704000-33705600	Enhancers	Left Ventricle	heart
42	chr2:33704000-33706000	Enhancers	Psoas Muscle	Psoas
43	chr2:33704200-33704600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr2:33704200-33704600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr2:33704200-33704600	Enhancers	Fetal Heart	heart
46	chr2:33704200-33704600	Flanking Active TSS	K562	blood
47	chr2:33704200-33704800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:33704200-33704800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr2:33704200-33704800	Enhancers	Stomach Mucosa	stomach
50	chr2:33704200-33705800	Enhancers	Brain Inferior Temporal Lobe	brain

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