Variant report

Variant	esv3397234
Chromosome Location	chr18:44276654-44279552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115060169	chr18:44276665-44276666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145603697	chr18:44276700-44276701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148881146	chr18:44276725-44276726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561826715	chr18:44276729-44276730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577972966	chr18:44276736-44276737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540682858	chr18:44276780-44276781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3886794	chr18:44276839-44276840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114024626	chr18:44276841-44276842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377602896	chr18:44276860-44276861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549590846	chr18:44276869-44276870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563111377	chr18:44276888-44276889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532023612	chr18:44276897-44276898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552127837	chr18:44276898-44276899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2469900	chr18:44276907-44276908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2447527	chr18:44276911-44276912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144075811	chr18:44276913-44276914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539063437	chr18:44276916-44276917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575860247	chr18:44276927-44276928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546618824	chr18:44276930-44276931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535539285	chr18:44276937-44276938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566433705	chr18:44276962-44276963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535206119	chr18:44276968-44276969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189057502	chr18:44276971-44276972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575116880	chr18:44276972-44276973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146454713	chr18:44276978-44276979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116005030	chr18:44276984-44276985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145243221	chr18:44276988-44276989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528357073	chr18:44277088-44277089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs398041368	chr18:44277105-44277106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35310725	chr18:44277106-44277107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4402660	chr18:44277110-44277111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560576268	chr18:44277170-44277171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574037232	chr18:44277198-44277199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181365978	chr18:44277199-44277200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543173724	chr18:44277208-44277209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs60870197	chr18:44277223-44277224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564337366	chr18:44277226-44277227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531960773	chr18:44277275-44277276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374437304	chr18:44277358-44277359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185631931	chr18:44277362-44277363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs578173868	chr18:44277386-44277387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369957773	chr18:44277414-44277415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528026918	chr18:44277465-44277466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544153736	chr18:44277575-44277576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546260711	chr18:44277673-44277674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372373299	chr18:44277715-44277716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528927631	chr18:44277815-44277816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201607825	chr18:44277855-44277856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375343981	chr18:44277864-44277865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548683707	chr18:44277865-44277866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
small cell lung cancer	17426248	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:44258200-44280000	Weak transcription	HSMMtube	muscle
3	chr18:44260800-44286600	Weak transcription	Brain Germinal Matrix	brain
4	chr18:44273200-44288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:44275600-44277000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr18:44275800-44277000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr18:44275800-44278400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr18:44276000-44277000	Enhancers	Psoas Muscle	Psoas
9	chr18:44276400-44276800	Enhancers	Fetal Heart	heart
10	chr18:44276600-44286600	Weak transcription	Left Ventricle	heart
11	chr18:44277000-44282200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr18:44277000-44282200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr18:44277000-44282400	Weak transcription	Psoas Muscle	Psoas
14	chr18:44278400-44280600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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