Variant report

Variant	rs543772171
Chromosome Location	chr18:14450628-14450629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431972	chr18:13804043-14753900	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv428006	chr18:14087067-14874733	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv576531	chr18:14105923-14540310	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757670	chr18:14208563-14558050	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv916419	chr18:14418522-15165372	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv909426	chr18:14419170-14495615	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1830864	chr18:14419817-14560183	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1828427	chr18:14430015-14560355	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1849680	chr18:14430215-14521480	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv1830968	chr18:14430215-14543123	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1828368	chr18:14430215-14560155	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv16841	chr18:14431322-14599321	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1832994	chr18:14431387-14560355	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv1793307	chr18:14431679-14550021	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv1844581	chr18:14431679-14560155	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv833593	chr18:14432183-14609021	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv1849307	chr18:14434003-14489426	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv1831862	chr18:14434450-14460476	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
19	esv1844931	chr18:14435124-14489226	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv9615	chr18:14441576-14609353	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv533648	chr18:14444782-14511925	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv2214	chr18:14449752-14461382	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
23	esv3317309	chr18:14450493-14460678	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
24	esv3317310	chr18:14450493-14460678	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14449600-14451000	Active TSS	HSMM	muscle
2	chr18:14450000-14451000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:14450000-14451000	Active TSS	Brain Germinal Matrix	brain
4	chr18:14450000-14451000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:14450000-14451000	Active TSS	Colonic Mucosa	Colon
6	chr18:14450000-14451000	Active TSS	Colon Smooth Muscle	Colon
7	chr18:14450000-14451000	Active TSS	Fetal Brain Female	brain
8	chr18:14450000-14451200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:14450200-14450800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr18:14450200-14450800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:14450200-14451000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:14450200-14451000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:14450200-14451000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr18:14450200-14451000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:14450200-14451000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr18:14450200-14451000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr18:14450200-14451000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:14450200-14451000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:14450200-14451000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:14450200-14451000	Active TSS	Adipose Nuclei	Adipose
21	chr18:14450200-14451000	Active TSS	Brain Angular Gyrus	brain
22	chr18:14450200-14451000	Active TSS	Brain Hippocampus Middle	brain
23	chr18:14450200-14451000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr18:14450200-14451000	Active TSS	Esophagus	oesophagus
25	chr18:14450200-14451000	Active TSS	Left Ventricle	heart
26	chr18:14450200-14451000	Active TSS	Pancreas	Pancrea
27	chr18:14450200-14451000	Active TSS	Right Ventricle	heart
28	chr18:14450200-14451000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr18:14450200-14451000	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr18:14450200-14451000	Active TSS	Stomach Smooth Muscle	stomach
31	chr18:14450200-14451200	Active TSS	HMEC	breast
32	chr18:14450200-14453400	Active TSS	Osteobl	bone
33	chr18:14450400-14450800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr18:14450400-14451000	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr18:14450400-14451000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:14450400-14451000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:14450400-14451000	Active TSS	Primary hematopoietic stem cells	blood
38	chr18:14450400-14451000	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr18:14450400-14451000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr18:14450400-14451000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr18:14450400-14451000	Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr18:14450400-14451000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr18:14450400-14451000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:14450400-14451000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:14450400-14451000	Active TSS	Aorta	Aorta
46	chr18:14450400-14451000	Active TSS	Brain Anterior Caudate	brain
47	chr18:14450400-14451000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr18:14450400-14451000	Active TSS	Brain Substantia Nigra	brain
49	chr18:14450400-14451000	Active TSS	Duodenum Mucosa	Duodenum
50	chr18:14450400-14451000	Active TSS	Gastric	stomach

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