Variant report

Variant	rs375273548
Chromosome Location	chr16:46695619-46695620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1066221	chr16:46463770-46699143	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv984334	chr16:46674416-46704148	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv572536	chr16:46694649-46727385	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46683200-46696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:46683200-46696600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:46684000-46695800	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:46684200-46695800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:46684200-46701800	Weak transcription	Psoas Muscle	Psoas
6	chr16:46684400-46695800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:46686600-46701800	Weak transcription	Fetal Heart	heart
8	chr16:46689000-46713600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr16:46689200-46696200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:46689200-46715800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:46689600-46697200	Strong transcription	Fetal Muscle Leg	muscle
12	chr16:46689800-46705400	Weak transcription	Small Intestine	intestine
13	chr16:46689800-46716200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:46690000-46695800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:46690000-46701200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr16:46690400-46716200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:46690600-46697200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:46690600-46700600	Strong transcription	Fetal Stomach	stomach
19	chr16:46691000-46697200	Strong transcription	Primary T cells from cord blood	blood
20	chr16:46691000-46697200	Strong transcription	A549	lung
21	chr16:46691000-46701600	Strong transcription	Fetal Brain Female	brain
22	chr16:46691000-46701800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:46691000-46702000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:46691000-46704000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:46691000-46705800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:46691000-46714800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr16:46691000-46715000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:46691000-46715600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:46691000-46716200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr16:46691000-46716800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:46691000-46718000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr16:46691200-46698400	Strong transcription	Osteobl	bone
33	chr16:46691200-46699200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr16:46691200-46699600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:46691200-46701800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:46691200-46705800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr16:46691200-46714800	Strong transcription	Liver	Liver
38	chr16:46691200-46716200	Strong transcription	Adipose Nuclei	Adipose
39	chr16:46691200-46716400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr16:46691200-46716800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:46691200-46717000	Strong transcription	Dnd41	blood
42	chr16:46691200-46717400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr16:46691400-46697000	Strong transcription	HUVEC	blood vessel
44	chr16:46691400-46697000	Strong transcription	NH-A	brain
45	chr16:46691400-46697200	Strong transcription	Lung	lung
46	chr16:46691600-46707800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:46691600-46708800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr16:46692000-46705800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:46692000-46706000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:46692200-46697200	Strong transcription	HMEC	breast

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