Variant report

Variant	esv3425856
Chromosome Location	chr18:39187204-39189302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374637175	chr18:39187216-39187217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72907836	chr18:39187223-39187224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185544005	chr18:39187300-39187301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141630717	chr18:39187340-39187341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572487258	chr18:39187437-39187438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370181573	chr18:39187483-39187484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56339629	chr18:39187512-39187513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543103877	chr18:39187532-39187533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114151955	chr18:39187536-39187537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576367608	chr18:39187537-39187538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560326997	chr18:39187540-39187541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141692238	chr18:39187561-39187562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201054251	chr18:39187568-39187569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150103564	chr18:39187576-39187577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375420010	chr18:39187577-39187578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529390669	chr18:39187592-39187593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532804911	chr18:39187596-39187597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386802648	chr18:39187668-39187669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559891789	chr18:39187670-39187671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16975051	chr18:39187679-39187680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs61240876	chr18:39187710-39187711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76782594	chr18:39187729-39187730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567185126	chr18:39187742-39187743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531223839	chr18:39187775-39187776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147058710	chr18:39187786-39187787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189620204	chr18:39187800-39187801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59671788	chr18:39187817-39187818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538536513	chr18:39187834-39187835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58350157	chr18:39187847-39187848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565845419	chr18:39187869-39187870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4404160	chr18:39187890-39187891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373366942	chr18:39187925-39187926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555058629	chr18:39187933-39187934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138141710	chr18:39187934-39187935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530453506	chr18:39187950-39187951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543839252	chr18:39187977-39187978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558954182	chr18:39187982-39187983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577654536	chr18:39188002-39188003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180810153	chr18:39188008-39188009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112619836	chr18:39188080-39188081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530300385	chr18:39188140-39188141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4608412	chr18:39188148-39188149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561059787	chr18:39188218-39188219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370029527	chr18:39188242-39188243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531259741	chr18:39188256-39188257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568928875	chr18:39188286-39188287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549405698	chr18:39188291-39188292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141721029	chr18:39188295-39188296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199739159	chr18:39188297-39188298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556850623	chr18:39188299-39188300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Hepatocellular carcinoma	16750200	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	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39174800-39190400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:39182600-39204400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:39185000-39209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links