Variant report

Variant	rs531136220
Chromosome Location	chr13:48471863-48471864
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48470064..48472473-chr13:48479999..48482410,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234689	Chromatin interaction

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	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1803690	chr13:48470681-48508091	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48451000-48480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:48457200-48478000	Weak transcription	Adipose Nuclei	Adipose
3	chr13:48461000-48472200	Weak transcription	Spleen	Spleen
4	chr13:48461000-48472400	Weak transcription	Lung	lung
5	chr13:48461000-48478200	Weak transcription	Left Ventricle	heart
6	chr13:48463600-48474600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:48465000-48484000	Weak transcription	Primary T cells from cord blood	blood
8	chr13:48465200-48478200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:48468600-48485600	Weak transcription	Gastric	stomach
10	chr13:48468800-48479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:48468800-48482400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr13:48469000-48478200	Weak transcription	Esophagus	oesophagus
13	chr13:48470400-48478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:48471000-48472600	Enhancers	HepG2	liver
15	chr13:48471400-48472000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:48471400-48472000	Enhancers	HSMM	muscle
17	chr13:48471400-48472200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:48471400-48472400	Enhancers	HMEC	breast
19	chr13:48471400-48472600	Enhancers	NH-A	brain
20	chr13:48471600-48472000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:48471600-48472000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:48471600-48472000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:48471600-48472000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:48471600-48472000	Enhancers	Osteobl	bone
25	chr13:48471600-48472200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:48471600-48472200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:48471600-48472200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr13:48471600-48472200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:48471600-48472200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:48471600-48472200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr13:48471600-48472200	Enhancers	NHEK	skin
32	chr13:48471600-48472600	Enhancers	Placenta	Placenta
33	chr13:48471800-48472000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:48471800-48472200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr13:48471800-48472200	Enhancers	HUES64 Cell Line	embryonic stem cell

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