Variant report

Variant	esv3511735
Chromosome Location	chr18:14456152-14462200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 225 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202064348	chr18:14456230-14456231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62080636	chr18:14456235-14456236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553061260	chr18:14456244-14456245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62080637	chr18:14456272-14456273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200448222	chr18:14456280-14456281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535681801	chr18:14456364-14456365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569269260	chr18:14456374-14456375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555603902	chr18:14456456-14456457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575567524	chr18:14456483-14456484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544532534	chr18:14456626-14456627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564444937	chr18:14456675-14456676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577989682	chr18:14456676-14456677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540352355	chr18:14456695-14456696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560673911	chr18:14456751-14456752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529459004	chr18:14456785-14456786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542768278	chr18:14456806-14456807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377287377	chr18:14456813-14456814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562754048	chr18:14456816-14456817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531852545	chr18:14456823-14456824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536922617	chr18:14456843-14456844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369835749	chr18:14456851-14456852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372454302	chr18:14456870-14456871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55735039	chr18:14456886-14456887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570330794	chr18:14456887-14456888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532978104	chr18:14456908-14456909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184855692	chr18:14456927-14456928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566609608	chr18:14456945-14456946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12605840	chr18:14456974-14456975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555567180	chr18:14456999-14457000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200350468	chr18:14457020-14457021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200304689	chr18:14457026-14457027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs59289763	chr18:14457033-14457034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569094396	chr18:14457097-14457098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373483884	chr18:14457160-14457161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375226992	chr18:14457173-14457174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369263715	chr18:14457212-14457213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116103896	chr18:14457322-14457323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188571964	chr18:14457328-14457329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555210904	chr18:14457337-14457338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12606292	chr18:14457357-14457358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs374890580	chr18:14457363-14457364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534472311	chr18:14457367-14457368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193019489	chr18:14457369-14457370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12604275	chr18:14457413-14457414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372457498	chr18:14457466-14457467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184741367	chr18:14457510-14457511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542731551	chr18:14457513-14457514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12604296	chr18:14457532-14457533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149996411	chr18:14457563-14457564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545281283	chr18:14457579-14457580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14451000-14458000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:14451200-14458000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:14453400-14457200	Weak transcription	Osteobl	bone
4	chr18:14454400-14456800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:14455400-14457800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr18:14456800-14458600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:14457200-14458200	Enhancers	Osteobl	bone
8	chr18:14457600-14458000	Enhancers	Pancreas	Pancrea
9	chr18:14457800-14458000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr18:14457800-14458600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr18:14457800-14458600	Active TSS	HepG2	liver
12	chr18:14458000-14458200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr18:14458000-14458200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr18:14458000-14458200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr18:14458000-14458200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:14458000-14458200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:14458000-14458200	Enhancers	Adipose Nuclei	Adipose
18	chr18:14458000-14458200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr18:14458000-14458200	Enhancers	Placenta	Placenta
20	chr18:14458000-14458200	Enhancers	Dnd41	blood
21	chr18:14458000-14458400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:14458000-14458400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr18:14458000-14458400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr18:14458000-14458400	Enhancers	Brain Angular Gyrus	brain
25	chr18:14458000-14458400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr18:14458000-14458600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:14458000-14458600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr18:14458000-14458600	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr18:14458000-14458600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr18:14458000-14458600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr18:14458000-14458600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:14458000-14458600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:14458000-14458600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:14458000-14458600	Active TSS	Liver	Liver
35	chr18:14458000-14458600	Active TSS	Brain Hippocampus Middle	brain
36	chr18:14458000-14458600	Active TSS	Colonic Mucosa	Colon
37	chr18:14458000-14458600	Active TSS	Duodenum Mucosa	Duodenum
38	chr18:14458000-14458600	Enhancers	Esophagus	oesophagus
39	chr18:14458000-14458600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr18:14458000-14458600	Active TSS	Rectal Smooth Muscle	rectum
41	chr18:14458000-14458600	Active TSS	Right Atrium	heart
42	chr18:14458000-14458600	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr18:14458000-14458600	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr18:14458000-14458600	Active TSS	A549	lung
45	chr18:14458000-14458800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr18:14458000-14458800	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr18:14458000-14458800	Active TSS	Pancreas	Pancrea
48	chr18:14458000-14458800	Active TSS	Right Ventricle	heart
49	chr18:14458000-14459000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr18:14458000-14459200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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