Variant report

Variant	rs543904579
Chromosome Location	chr5:16180369-16180370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:16177252-16182613	SK-N-SH	brain:	n/a	n/a
2	MAX	chr5:16180271-16180820	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr5:16180078-16180910	H1-hESC	embryonic stem cell:	n/a	chr5:16180114-16180124
4	POLR2A	chr5:16178782-16180642	H1-neurons	neurons:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL7-2	chr5:16180347-16180549	ENSG00000250448

Variant related genes	Relation type
MARCH11	TF binding region

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	nsv830217	chr5:16004704-16225229	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3407056	chr5:16177977-16180525	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3359354	chr5:16178477-16181525	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3498640	chr5:16178577-16181350	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3498642	chr5:16178577-16181350	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16178600-16181000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
2	chr5:16178800-16180600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:16179000-16180400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:16179000-16180400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr5:16179000-16180400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:16179000-16180400	Weak transcription	Fetal Heart	heart
7	chr5:16179000-16180400	Bivalent Enhancer	Lung	lung
8	chr5:16179200-16180400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:16179200-16180400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:16179200-16180400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:16179200-16180800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr5:16179200-16180800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:16179400-16180600	Bivalent/Poised TSS	Left Ventricle	heart
14	chr5:16179400-16180800	Active TSS	Right Ventricle	heart
15	chr5:16179800-16180600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr5:16179800-16180600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:16180000-16180400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:16180000-16180400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:16180000-16180400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr5:16180000-16180400	Enhancers	Gastric	stomach
21	chr5:16180000-16180400	Flanking Bivalent TSS/Enh	Ovary	ovary
22	chr5:16180000-16180600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:16180000-16180600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr5:16180000-16180600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr5:16180000-16180600	Bivalent Enhancer	Fetal Stomach	stomach
26	chr5:16180000-16180800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr5:16180000-16180800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:16180000-16180800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:16180000-16181200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr5:16180200-16180400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:16180200-16180400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:16180200-16180400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr5:16180200-16180400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:16180200-16180400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:16180200-16180400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:16180200-16180400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:16180200-16180400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:16180200-16180400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:16180200-16180400	Bivalent Enhancer	Esophagus	oesophagus
40	chr5:16180200-16180400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
41	chr5:16180200-16180400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
42	chr5:16180200-16180400	ZNF genes & repeats	Right Atrium	heart
43	chr5:16180200-16180400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr5:16180200-16180400	ZNF genes & repeats	Spleen	Spleen
45	chr5:16180200-16180600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:16180200-16180600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr5:16180200-16180600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:16180200-16180600	Active TSS	Brain Anterior Caudate	brain
49	chr5:16180200-16180600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr5:16180200-16180600	Active TSS	Brain Inferior Temporal Lobe	brain

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