Variant report

Variant	esv3405340
Chromosome Location	chr18:39157004-39158002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143528317	chr18:39157022-39157023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575252257	chr18:39157024-39157025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572068047	chr18:39157053-39157054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542917430	chr18:39157078-39157079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529103477	chr18:39157121-39157122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188843832	chr18:39157128-39157129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542305688	chr18:39157182-39157183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192881885	chr18:39157184-39157185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543640926	chr18:39157202-39157203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142680649	chr18:39157268-39157269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566517939	chr18:39157281-39157282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200788508	chr18:39157292-39157293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185819807	chr18:39157303-39157304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572490543	chr18:39157313-39157314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572437652	chr18:39157327-39157328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112593116	chr18:39157336-39157337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202235119	chr18:39157337-39157338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529130871	chr18:39157367-39157368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370663446	chr18:39157383-39157384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374117486	chr18:39157405-39157406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377318404	chr18:39157429-39157430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545240056	chr18:39157438-39157439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71174059	chr18:39157515-39157516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187799468	chr18:39157534-39157535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370372822	chr18:39157537-39157538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112607504	chr18:39157558-39157559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533796393	chr18:39157560-39157561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113810139	chr18:39157561-39157562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532908748	chr18:39157575-39157576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551469271	chr18:39157580-39157581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560203458	chr18:39157602-39157603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527272172	chr18:39157650-39157651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549336175	chr18:39157654-39157655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371401228	chr18:39157733-39157734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72905911	chr18:39157801-39157802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78320203	chr18:39157802-39157803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142707207	chr18:39157815-39157816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533629848	chr18:39157832-39157833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34342846	chr18:39157842-39157843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192421370	chr18:39157904-39157905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146026858	chr18:39157915-39157916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553802538	chr18:39157924-39157925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200197793	chr18:39157972-39157973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183840722	chr18:39157994-39157995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112133863	chr18:39157999-39158000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39150400-39161400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:39154400-39158200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:39154800-39157200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr18:39155800-39157800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:39155800-39158200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:39156000-39157200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr18:39156600-39158400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:39156800-39157200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr18:39156800-39157200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr18:39157600-39160000	Enhancers	Liver	Liver
11	chr18:39157800-39159200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:39158000-39159000	Enhancers	Fetal Heart	heart

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