Variant report

Variant	rs547660230
Chromosome Location	chr16:46919264-46919265
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	chr16:46822185..46825488-chr16:46917726..46919426,3	K562	blood:

Variant related genes	Relation type
ENSG00000260782	Chromatin interaction
ENSG00000140795	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	esv3519767	chr16:46873184-46960035	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3519768	chr16:46873184-46960035	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1831215	chr16:46907546-46962858	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1799095	chr16:46916670-46972671	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv3326361	chr16:46917676-46920224	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46917200-46919400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:46917200-46919400	Active TSS	Liver	Liver
3	chr16:46917200-46919600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr16:46917200-46919800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:46917200-46920800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr16:46917200-46921200	Active TSS	Pancreas	Pancrea
7	chr16:46917400-46919400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:46917400-46919400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:46917400-46919600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr16:46917400-46919600	Active TSS	Brain Anterior Caudate	brain
11	chr16:46917400-46919600	Active TSS	Right Atrium	heart
12	chr16:46917400-46919800	Active TSS	Brain Angular Gyrus	brain
13	chr16:46917400-46920200	Active TSS	Fetal Kidney	kidney
14	chr16:46917400-46920400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr16:46917400-46920800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:46917600-46919400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:46917600-46919400	Active TSS	Stomach Mucosa	stomach
18	chr16:46917600-46919600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:46917600-46919600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr16:46917600-46919600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr16:46917600-46919600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:46917600-46919600	Active TSS	Fetal Brain Female	brain
23	chr16:46917600-46919800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:46917600-46919800	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr16:46917600-46919800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr16:46917600-46920000	Active TSS	Esophagus	oesophagus
27	chr16:46917600-46920600	Active TSS	Gastric	stomach
28	chr16:46917800-46919400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:46917800-46919400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:46917800-46919400	Active TSS	Brain Cingulate Gyrus	brain
31	chr16:46917800-46919400	Active TSS	Colonic Mucosa	Colon
32	chr16:46917800-46919400	Active TSS	HSMMtube	muscle
33	chr16:46917800-46919400	Active TSS	NHLF	lung
34	chr16:46917800-46919600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr16:46917800-46919600	Active TSS	HSMM	muscle
36	chr16:46917800-46919800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr16:46918000-46919600	Active TSS	HMEC	breast
38	chr16:46918000-46919800	Bivalent/Poised TSS	HepG2	liver
39	chr16:46918200-46919600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:46918400-46920000	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr16:46918600-46919400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr16:46918600-46919600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:46918800-46919400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr16:46918800-46919800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr16:46918800-46920600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr16:46918800-46920800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr16:46918800-46920800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:46918800-46921000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr16:46918800-46921000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr16:46918800-46921000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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