Variant report

Variant	rs530879592
Chromosome Location	chr2:172381347-172381348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172381109..172383253-chr2:172401135..172403233,2	K562	blood:
2	chr2:172380578..172383300-chr2:172395054..172396804,2	K562	blood:
3	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3411053	chr2:172381317-172381536	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172378800-172381600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:172380200-172381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:172380200-172381400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr2:172380400-172381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:172380400-172381400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr2:172380400-172381400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:172380400-172381400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:172380600-172387400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:172380800-172381400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:172380800-172381400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:172380800-172381400	Enhancers	Fetal Heart	heart
12	chr2:172380800-172381400	Flanking Active TSS	NHDF-Ad	bronchial
13	chr2:172380800-172382000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:172381000-172381400	Flanking Active TSS	HSMMtube	muscle
15	chr2:172381000-172381800	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:172381000-172381800	Active TSS	Stomach Smooth Muscle	stomach
17	chr2:172381000-172382000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:172381000-172382000	Enhancers	HUVEC	blood vessel
19	chr2:172381000-172387000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:172381000-172388000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:172381000-172388000	Weak transcription	Small Intestine	intestine
22	chr2:172381000-172394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:172381000-172397800	Weak transcription	Gastric	stomach
24	chr2:172381000-172397800	Weak transcription	Left Ventricle	heart
25	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
26	chr2:172381200-172381400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:172381200-172381400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:172381200-172381400	Enhancers	Brain Anterior Caudate	brain
29	chr2:172381200-172381400	Enhancers	Brain Hippocampus Middle	brain
30	chr2:172381200-172381400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr2:172381200-172381400	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr2:172381200-172381400	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:172381200-172381400	Enhancers	HSMM	muscle
34	chr2:172381200-172381400	Enhancers	NHLF	lung
35	chr2:172381200-172381600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:172381200-172381600	Enhancers	Osteobl	bone
37	chr2:172381200-172381800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:172381200-172381800	Enhancers	Fetal Lung	lung
39	chr2:172381200-172381800	Enhancers	Fetal Muscle Leg	muscle
40	chr2:172381200-172382000	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:172381200-172382000	Enhancers	Adipose Nuclei	Adipose
42	chr2:172381200-172382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:172381200-172382000	Enhancers	Fetal Stomach	stomach
44	chr2:172381200-172382000	Enhancers	Ovary	ovary
45	chr2:172381200-172382200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:172381200-172382200	Enhancers	Colon Smooth Muscle	Colon
47	chr2:172381200-172382200	Enhancers	GM12878-XiMat	blood
48	chr2:172381200-172382200	Enhancers	NHEK	skin
49	chr2:172381200-172382400	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:172381200-172385600	Weak transcription	Aorta	Aorta

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