Variant report

Variant	rs543347316
Chromosome Location	chr1:222053759-222053760
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	chr1:221915716..221917980-chr1:222052338..222055276,2	MCF-7	breast:

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	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv518321	chr1:222053234-222055403	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222047800-222054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:222048600-222073600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:222048800-222060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:222050400-222054000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:222051000-222053800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:222051000-222056000	Enhancers	NHDF-Ad	bronchial
7	chr1:222051400-222054000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:222051400-222054000	Enhancers	Osteobl	bone
9	chr1:222051400-222054600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:222051600-222055800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:222052000-222054200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:222052400-222055000	Enhancers	Adipose Nuclei	Adipose
13	chr1:222052400-222059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:222052600-222058600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:222052800-222055400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:222053000-222054000	Weak transcription	Fetal Lung	lung
17	chr1:222053000-222054400	Weak transcription	Ovary	ovary
18	chr1:222053000-222058000	Weak transcription	Psoas Muscle	Psoas
19	chr1:222053000-222058400	Weak transcription	HSMM	muscle
20	chr1:222053000-222059200	Weak transcription	HMEC	breast
21	chr1:222053000-222059600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:222053000-222059600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:222053000-222060200	Weak transcription	HSMMtube	muscle
24	chr1:222053000-222060400	Weak transcription	Aorta	Aorta

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