Variant report

Variant	nsv818232
Chromosome Location	chr4:46589847-46606593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34731732	chr4:46594047-46594048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140607183	chr4:46594071-46594072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145729829	chr4:46594167-46594168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539637339	chr4:46594170-46594171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554761742	chr4:46594178-46594179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138195765	chr4:46594247-46594248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531614079	chr4:46594252-46594253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367722212	chr4:46594277-46594278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141179896	chr4:46594317-46594318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568467369	chr4:46594359-46594360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150194993	chr4:46594361-46594362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553968340	chr4:46594385-46594386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79679039	chr4:46594396-46594397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540014278	chr4:46594399-46594400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553440123	chr4:46603683-46603684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543176497	chr4:46603721-46603722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571768331	chr4:46603749-46603750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187326333	chr4:46603785-46603786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545991988	chr4:46603818-46603819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528717173	chr4:46603868-46603869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73137119	chr4:46603932-46603933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564587444	chr4:46603949-46603950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532114106	chr4:46603964-46603965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191777548	chr4:46603966-46603967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568901531	chr4:46604063-46604064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147735099	chr4:46604076-46604077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574997202	chr4:46604093-46604094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143999151	chr4:46604113-46604114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375892193	chr4:46604114-46604115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536413739	chr4:46604145-46604146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566781448	chr4:46604157-46604158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4543080	chr4:46604215-46604216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558869348	chr4:46604218-46604219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576679829	chr4:46604232-46604233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371710650	chr4:46604236-46604237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554168908	chr4:46604239-46604240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115181174	chr4:46604252-46604253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187478883	chr4:46604330-46604331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28405199	chr4:46604344-46604345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193272688	chr4:46604385-46604386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575644689	chr4:46604405-46604406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542819662	chr4:46604450-46604451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561184173	chr4:46604476-46604477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573095386	chr4:46604541-46604542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540554893	chr4:46604673-46604674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368569763	chr4:46604683-46604684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371233723	chr4:46604701-46604702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565559642	chr4:46604719-46604720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374159746	chr4:46604768-46604769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532030050	chr4:46604820-46604821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:46594000-46594400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:46603600-46604000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:46604000-46605000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:46605000-46605400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links