Variant report

Variant	rs111823573
Chromosome Location	chr2:72782865-72782866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3331567	chr2:72782444-72785842	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72761400-72783000	Weak transcription	Aorta	Aorta
2	chr2:72766600-72786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:72766800-72788000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:72766800-72788600	Weak transcription	NH-A	brain
5	chr2:72766800-72789200	Weak transcription	NHEK	skin
6	chr2:72768800-72786800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:72774000-72783000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:72775000-72808800	Weak transcription	Ovary	ovary
9	chr2:72776600-72783000	Weak transcription	Fetal Lung	lung
10	chr2:72776800-72783000	Weak transcription	Brain Substantia Nigra	brain
11	chr2:72777200-72789000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:72779000-72783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:72779600-72783000	Weak transcription	A549	lung
14	chr2:72781200-72788600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:72781200-72788600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:72781200-72788800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:72781800-72787000	Weak transcription	HUVEC	blood vessel
18	chr2:72781800-72788600	Weak transcription	HSMM	muscle
19	chr2:72781800-72789000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:72781800-72789000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:72781800-72789600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:72782000-72788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:72782200-72784200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:72782200-72784800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:72782400-72783000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:72782400-72783200	Weak transcription	Left Ventricle	heart
27	chr2:72782600-72783000	Weak transcription	HSMMtube	muscle
28	chr2:72782800-72783200	ZNF genes & repeats	Fetal Stomach	stomach
29	chr2:72782800-72783600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:72782800-72783600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:72782800-72784000	Enhancers	HepG2	liver

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