Variant report

Variant	rs559139265
Chromosome Location	chr5:16180523-16180524
allele	C/T
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	TBP	chr5:16180493-16180666	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr5:16180078-16180910	H1-hESC	embryonic stem cell:	n/a	chr5:16180114-16180124
5	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:44 , 50 per page) page: 1

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	chr5:16179200-16180800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr5:16179200-16180800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:16179400-16180600	Bivalent/Poised TSS	Left Ventricle	heart
6	chr5:16179400-16180800	Active TSS	Right Ventricle	heart
7	chr5:16179800-16180600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:16179800-16180600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:16180000-16180600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:16180000-16180600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr5:16180000-16180600	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr5:16180000-16180600	Bivalent Enhancer	Fetal Stomach	stomach
13	chr5:16180000-16180800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr5:16180000-16180800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:16180000-16180800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:16180000-16181200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr5:16180200-16180600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:16180200-16180600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:16180200-16180600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:16180200-16180600	Active TSS	Brain Anterior Caudate	brain
21	chr5:16180200-16180600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr5:16180200-16180600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:16180200-16180600	Bivalent Enhancer	Fetal Brain Male	brain
24	chr5:16180200-16180800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr5:16180200-16180800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:16180200-16180800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr5:16180200-16180800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:16180200-16180800	Flanking Active TSS	Pancreas	Pancrea
29	chr5:16180200-16181000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr5:16180200-16181000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr5:16180200-16181400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:16180400-16180600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:16180400-16180600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:16180400-16180600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:16180400-16180600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:16180400-16180600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:16180400-16180600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr5:16180400-16180600	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr5:16180400-16180600	Active TSS	Fetal Heart	heart
40	chr5:16180400-16180600	Bivalent/Poised TSS	Fetal Kidney	kidney
41	chr5:16180400-16180800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:16180400-16180800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:16180400-16181000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr5:16180400-16181200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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