Variant report

Variant	rs542787587
Chromosome Location	chr2:72562229-72562230
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72531200-72594800	Weak transcription	Esophagus	oesophagus
2	chr2:72537200-72567800	Weak transcription	Ovary	ovary
3	chr2:72538600-72567800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:72551800-72563400	Weak transcription	Primary T cells from cord blood	blood
5	chr2:72552600-72568600	Weak transcription	Fetal Brain Male	brain
6	chr2:72553000-72563600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:72553600-72576000	Weak transcription	Fetal Heart	heart
8	chr2:72553800-72594600	Weak transcription	Aorta	Aorta
9	chr2:72554400-72567600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:72558000-72568800	Weak transcription	HMEC	breast
11	chr2:72559200-72607400	Weak transcription	Liver	Liver
12	chr2:72560600-72563000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:72560600-72563200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:72560600-72594800	Weak transcription	Pancreas	Pancrea
15	chr2:72560800-72562400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:72561400-72562800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:72561400-72562800	Enhancers	Brain Hippocampus Middle	brain
18	chr2:72561600-72563000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:72561600-72571800	Weak transcription	Adipose Nuclei	Adipose
20	chr2:72562000-72562400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:72562000-72562400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr2:72562000-72562400	Enhancers	Fetal Muscle Leg	muscle
23	chr2:72562200-72562400	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:72562200-72562400	Enhancers	Brain Substantia Nigra	brain
25	chr2:72562200-72562400	Enhancers	Left Ventricle	heart
26	chr2:72562200-72562600	Flanking Active TSS	HSMMtube	muscle
27	chr2:72562200-72563000	Enhancers	Fetal Lung	lung
28	chr2:72562200-72563200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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