Variant report

Variant	rs115016815
Chromosome Location	chr13:48475911-48475912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3348733	chr13:48475480-48475985	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 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	chr13:48461000-48478200	Weak transcription	Left Ventricle	heart
4	chr13:48465000-48484000	Weak transcription	Primary T cells from cord blood	blood
5	chr13:48465200-48478200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:48468600-48485600	Weak transcription	Gastric	stomach
7	chr13:48468800-48479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:48468800-48482400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr13:48469000-48478200	Weak transcription	Esophagus	oesophagus
10	chr13:48470400-48478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:48472000-48477800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:48472000-48482200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:48472200-48482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:48472200-48482400	Weak transcription	NHEK	skin
15	chr13:48472200-48491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr13:48475400-48476000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:48475600-48476000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:48475600-48476000	Enhancers	HSMMtube	muscle
19	chr13:48475600-48476200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:48475600-48476400	Enhancers	NH-A	brain
21	chr13:48475800-48476000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:48475800-48476200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:48475800-48476600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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