Variant report

Variant	rs368647719
Chromosome Location	chr2:55429649-55429650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55397200-55450000	Weak transcription	NH-A	brain
2	chr2:55402800-55450000	Weak transcription	NHDF-Ad	bronchial
3	chr2:55403200-55431800	Weak transcription	Fetal Brain Male	brain
4	chr2:55415400-55450000	Weak transcription	GM12878-XiMat	blood
5	chr2:55416800-55450000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:55417400-55450200	Weak transcription	Placenta	Placenta
7	chr2:55417800-55439200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:55417800-55450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:55418400-55433600	Weak transcription	Brain Anterior Caudate	brain
10	chr2:55419400-55434400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:55419600-55431800	Weak transcription	Fetal Heart	heart
12	chr2:55420400-55433800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:55420600-55433600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:55421000-55433600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:55421800-55432000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:55423200-55438800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:55423600-55431000	Weak transcription	Gastric	stomach
18	chr2:55423800-55432800	Weak transcription	Pancreas	Pancrea
19	chr2:55423800-55448000	Weak transcription	HSMM	muscle
20	chr2:55424200-55432600	Weak transcription	HSMMtube	muscle
21	chr2:55424200-55432800	Weak transcription	NHEK	skin
22	chr2:55424200-55450000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:55424400-55434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:55424400-55435000	Weak transcription	Osteobl	bone
25	chr2:55424400-55442200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:55424600-55430200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:55424600-55430200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:55424600-55430800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:55424600-55431200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:55424600-55442800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:55424600-55449800	Weak transcription	Thymus	Thymus
32	chr2:55424600-55450000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:55424600-55450200	Weak transcription	Brain Germinal Matrix	brain
34	chr2:55424600-55451200	Weak transcription	HepG2	liver
35	chr2:55424800-55434000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:55424800-55450200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:55425000-55430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:55425600-55449800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:55427000-55430000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:55427000-55432200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:55427200-55430000	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:55427400-55432600	Weak transcription	Fetal Stomach	stomach
43	chr2:55427400-55432600	Weak transcription	Lung	lung
44	chr2:55427400-55433800	Weak transcription	Fetal Thymus	thymus
45	chr2:55427400-55434200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:55427400-55450200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:55427400-55450200	Weak transcription	Aorta	Aorta
48	chr2:55427400-55450600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:55427400-55450600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:55428000-55430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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