Variant report

Variant	rs553206546
Chromosome Location	chr13:48703977-48703978
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	chr11:134888413..134889240-chr13:48703699..48704350,2	MCF-7	breast:

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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48700400-48705600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:48701600-48704000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr13:48701800-48705000	Weak transcription	HMEC	breast
4	chr13:48701800-48705800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:48701800-48725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:48702000-48704800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr13:48702000-48705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:48702000-48705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:48702000-48705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:48702000-48705200	Weak transcription	NHEK	skin
11	chr13:48702000-48705600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr13:48702200-48704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:48702200-48705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:48702200-48705600	Weak transcription	HepG2	liver
15	chr13:48702200-48713800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:48702600-48704400	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:48703200-48704000	Enhancers	Fetal Thymus	thymus
18	chr13:48703200-48704000	Enhancers	Dnd41	blood
19	chr13:48703200-48704200	Enhancers	Primary T cells from cord blood	blood
20	chr13:48703600-48705800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr13:48703800-48705600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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