Variant report

Variant	rs568473756
Chromosome Location	chr2:33704946-33704947
allele	A/C
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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33700800-33705600	Active TSS	GM12878-XiMat	blood
2	chr2:33702200-33705600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:33702800-33705400	Weak transcription	Placenta	Placenta
4	chr2:33702800-33705600	Enhancers	Fetal Muscle Leg	muscle
5	chr2:33702800-33707600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:33703000-33707400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:33703000-33707400	Weak transcription	HSMMtube	muscle
8	chr2:33703200-33705000	Active TSS	Duodenum Mucosa	Duodenum
9	chr2:33703200-33705600	Enhancers	Adipose Nuclei	Adipose
10	chr2:33703200-33705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:33703200-33707600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:33703200-33707600	Weak transcription	NHDF-Ad	bronchial
13	chr2:33703200-33708600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:33703200-33709200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:33703400-33705400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:33703400-33706000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:33703400-33706200	Enhancers	Brain Anterior Caudate	brain
18	chr2:33703400-33706200	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:33703600-33705800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:33703600-33708800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:33703600-33711800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:33703600-33715600	Weak transcription	Spleen	Spleen
23	chr2:33704000-33705600	Enhancers	Left Ventricle	heart
24	chr2:33704000-33706000	Enhancers	Psoas Muscle	Psoas
25	chr2:33704200-33705800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:33704200-33706200	Enhancers	Brain Angular Gyrus	brain
27	chr2:33704400-33705000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr2:33704400-33705000	Enhancers	Pancreas	Pancrea
29	chr2:33704400-33705000	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:33704400-33705000	Flanking Active TSS	Right Ventricle	heart
31	chr2:33704400-33705000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr2:33704400-33705200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:33704400-33706000	Enhancers	Right Atrium	heart
34	chr2:33704600-33705000	Flanking Active TSS	Fetal Heart	heart
35	chr2:33704600-33705000	Enhancers	K562	blood
36	chr2:33704600-33705200	Active TSS	Brain Substantia Nigra	brain
37	chr2:33704600-33705800	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:33704600-33707800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:33704800-33705000	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
40	chr2:33704800-33705000	Enhancers	Fetal Lung	lung
41	chr2:33704800-33705200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr2:33704800-33705600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:33704800-33706000	Enhancers	Primary B cells from cord blood	blood
44	chr2:33704800-33706000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:33704800-33717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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