Variant report

Variant	rs538518110
Chromosome Location	chr2:63813829-63813830
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	chr2:63812159..63813845-chr2:63813874..63816684,2	MCF-7	breast:
2	chr2:63802150..63804372-chr2:63812471..63815243,3	K562	blood:

Variant related genes	Relation type
ENSG00000014641	Chromatin interaction
ENSG00000143951	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	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63780200-63814800	Weak transcription	Psoas Muscle	Psoas
2	chr2:63801000-63814400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:63806200-63814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:63808600-63814200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:63808800-63814800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:63809000-63814200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:63809000-63814200	Weak transcription	Osteobl	bone
8	chr2:63809200-63814000	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:63809200-63814000	Weak transcription	NHDF-Ad	bronchial
10	chr2:63809200-63814200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:63809200-63814200	Weak transcription	Adipose Nuclei	Adipose
12	chr2:63809200-63814200	Weak transcription	Right Ventricle	heart
13	chr2:63809200-63814600	Weak transcription	Stomach Mucosa	stomach
14	chr2:63809200-63814800	Weak transcription	Left Ventricle	heart
15	chr2:63809400-63814200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:63809800-63814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:63809800-63814800	Weak transcription	Thymus	Thymus
18	chr2:63810400-63814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:63811800-63814600	Weak transcription	Fetal Stomach	stomach
20	chr2:63813000-63817800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr2:63813400-63814000	Flanking Active TSS	GM12878-XiMat	blood
22	chr2:63813400-63814200	Enhancers	HepG2	liver
23	chr2:63813400-63814800	Enhancers	Fetal Heart	heart
24	chr2:63813400-63817400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:63813400-63817400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:63813400-63817600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:63813600-63814000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:63813600-63814000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:63813600-63814400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:63813600-63814400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:63813600-63814400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:63813600-63814400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:63813600-63814400	Enhancers	Brain Germinal Matrix	brain
34	chr2:63813600-63814400	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:63813600-63814400	Enhancers	NHEK	skin
36	chr2:63813600-63814600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:63813600-63814600	Enhancers	Hela-S3	cervix
38	chr2:63813600-63814800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:63813600-63814800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:63813600-63814800	Enhancers	Liver	Liver
41	chr2:63813600-63815000	Flanking Active TSS	Dnd41	blood
42	chr2:63813600-63817000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr2:63813600-63817000	Active TSS	K562	blood
44	chr2:63813600-63817200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:63813800-63814000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr2:63813800-63814000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:63813800-63814000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:63813800-63814000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:63813800-63814000	Enhancers	Gastric	stomach
50	chr2:63813800-63814000	Enhancers	Right Atrium	heart

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