Variant report

Variant	esv3438561
Chromosome Location	chr3:159800887-159807595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:159804455..159806862-chr3:159807790..159810359,2	K562	blood:

Extended variants
information (count: 239 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:239 , 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	rs6795264	chr3:159800890-159800891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144032658	chr3:159800894-159800895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143899155	chr3:159800909-159800910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80295088	chr3:159800917-159800918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551535286	chr3:159800947-159800948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375767376	chr3:159800975-159800976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534310440	chr3:159800980-159800981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75677206	chr3:159800981-159800982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558607121	chr3:159801035-159801036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370103447	chr3:159801057-159801058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567746048	chr3:159801100-159801101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6807951	chr3:159801108-159801109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556581588	chr3:159801125-159801126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578019579	chr3:159801128-159801129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538905744	chr3:159801134-159801135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554023894	chr3:159801145-159801146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182622634	chr3:159801172-159801173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370963372	chr3:159801173-159801174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34134292	chr3:159801202-159801203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542707564	chr3:159801242-159801243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544091530	chr3:159801280-159801281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560862569	chr3:159801306-159801307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185478748	chr3:159801329-159801330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368260659	chr3:159801338-159801339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76425517	chr3:159801359-159801360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564513537	chr3:159801472-159801473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189836499	chr3:159801496-159801497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551618874	chr3:159801520-159801521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373982842	chr3:159801526-159801527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376903984	chr3:159801527-159801528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560318039	chr3:159801564-159801565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527927610	chr3:159801576-159801577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549545978	chr3:159801696-159801697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567689020	chr3:159801748-159801749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148610128	chr3:159801751-159801752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550220002	chr3:159801760-159801761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571633046	chr3:159801780-159801781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182619151	chr3:159801818-159801819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115835199	chr3:159801819-159801820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370362847	chr3:159801853-159801854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114454560	chr3:159801868-159801869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536094341	chr3:159801885-159801886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528533195	chr3:159801896-159801897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554730329	chr3:159802014-159802015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540590321	chr3:159802030-159802031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543081140	chr3:159802132-159802133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564549401	chr3:159802179-159802180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78727178	chr3:159802203-159802204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540622106	chr3:159802219-159802220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142457688	chr3:159802235-159802236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159794400-159803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:159798600-159801800	Weak transcription	Esophagus	oesophagus
3	chr3:159800000-159801000	Enhancers	Gastric	stomach
4	chr3:159801000-159814600	Weak transcription	Gastric	stomach
5	chr3:159801800-159802000	Enhancers	Esophagus	oesophagus
6	chr3:159802000-159802600	Weak transcription	Esophagus	oesophagus
7	chr3:159802600-159802800	Enhancers	Esophagus	oesophagus
8	chr3:159802800-159803600	Enhancers	HMEC	breast
9	chr3:159802800-159808000	Weak transcription	Esophagus	oesophagus
10	chr3:159803000-159803600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:159806000-159807000	Enhancers	Liver	Liver
12	chr3:159806200-159807000	Enhancers	Pancreas	Pancrea
13	chr3:159807000-159825000	Weak transcription	Pancreas	Pancrea

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