Variant report

Variant	rs139248268
Chromosome Location	chr13:51187888-51187889
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	chr13:51185399..51188219-chr13:51502643..51505475,2	K562	blood:
2	chr13:51186188..51187899-chr13:51538381..51540074,2	K562	blood:

Variant related genes	Relation type
ENSG00000136104	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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1045733	chr13:51187575-51217464	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51181800-51204600	Weak transcription	Pancreas	Pancrea
2	chr13:51184400-51188200	Enhancers	Fetal Thymus	thymus
3	chr13:51184600-51188400	Enhancers	K562	blood
4	chr13:51186000-51191200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:51186400-51191000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:51186600-51188000	Enhancers	Fetal Muscle Leg	muscle
7	chr13:51186600-51190800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr13:51186600-51191000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr13:51187000-51188400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:51187000-51190200	Weak transcription	Dnd41	blood
11	chr13:51187000-51190800	Weak transcription	Primary B cells from cord blood	blood
12	chr13:51187000-51191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:51187000-51191400	Weak transcription	Thymus	Thymus
14	chr13:51187200-51188400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:51187200-51190800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr13:51187400-51188200	Enhancers	Fetal Kidney	kidney
17	chr13:51187400-51188400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:51187600-51188000	Enhancers	Fetal Heart	heart
19	chr13:51187600-51188000	Enhancers	Fetal Stomach	stomach
20	chr13:51187600-51188000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr13:51187600-51188400	Enhancers	NHDF-Ad	bronchial
22	chr13:51187800-51188000	Enhancers	Left Ventricle	heart
23	chr13:51187800-51188000	Enhancers	Osteobl	bone

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