Variant report

Variant	rs572301116
Chromosome Location	chr2:180057638-180057639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180039372..180041323-chr2:180056705..180058266,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1826248	chr2:180056341-180072860	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1842731	chr2:180056341-180076733	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv511167	chr2:180056341-180076733	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv3061	chr2:180057194-180095718	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
2	chr2:180015000-180060600	Weak transcription	Lung	lung
3	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
4	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
8	chr2:180041200-180058800	Weak transcription	Ovary	ovary
9	chr2:180043600-180058800	Weak transcription	Gastric	stomach
10	chr2:180046400-180061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:180051800-180057800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:180055200-180058800	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:180055200-180066800	Weak transcription	Fetal Kidney	kidney
14	chr2:180056000-180058400	Weak transcription	Adipose Nuclei	Adipose
15	chr2:180056200-180058400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:180056200-180058600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:180056200-180058800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:180056200-180060400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:180056200-180066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:180056400-180058200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:180056400-180058400	Weak transcription	Primary B cells from cord blood	blood
22	chr2:180056400-180059200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:180056400-180059800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:180057000-180059000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:180057200-180058200	Enhancers	Colon Smooth Muscle	Colon
26	chr2:180057200-180058800	Weak transcription	HepG2	liver
27	chr2:180057200-180060000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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