Variant report

Variant	nsv519736
Chromosome Location	chr3:162389205-162391801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12491408	chr3:162389205-162389206	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73876052	chr3:162389231-162389232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370997530	chr3:162389243-162389244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12488027	chr3:162389251-162389252	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537278482	chr3:162389296-162389297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556849451	chr3:162389302-162389303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551335990	chr3:162389312-162389313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577083926	chr3:162389368-162389369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368579035	chr3:162389372-162389373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558517149	chr3:162389378-162389379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545739226	chr3:162389443-162389444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77985818	chr3:162389451-162389452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186302471	chr3:162389482-162389483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543329755	chr3:162389491-162389492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78964592	chr3:162389527-162389528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561802859	chr3:162389583-162389584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144005255	chr3:162389628-162389629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556811018	chr3:162389630-162389631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191589951	chr3:162389688-162389689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73165532	chr3:162389727-162389728	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567555020	chr3:162389734-162389735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115514532	chr3:162389738-162389739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182879792	chr3:162389804-162389805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529282188	chr3:162389827-162389828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548942371	chr3:162389854-162389855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569031263	chr3:162389859-162389860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73165534	chr3:162389889-162389890	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550761865	chr3:162389934-162389935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73876057	chr3:162389968-162389969	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539618950	chr3:162389978-162389979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374397639	chr3:162389984-162389985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75369891	chr3:162390044-162390045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199688579	chr3:162390047-162390048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79077834	chr3:162390048-162390049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539168535	chr3:162390077-162390078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554056988	chr3:162390092-162390093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73876059	chr3:162390096-162390097	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73876061	chr3:162390109-162390110	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564375695	chr3:162390111-162390112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555377535	chr3:162390171-162390172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575429403	chr3:162390185-162390186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543923006	chr3:162390193-162390194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531308955	chr3:162390207-162390208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73876063	chr3:162390229-162390230	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73876065	chr3:162390261-162390262	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529005110	chr3:162390269-162390270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548368559	chr3:162390294-162390295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140799177	chr3:162390314-162390315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185683844	chr3:162390332-162390333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374595426	chr3:162390351-162390352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162386600-162390000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:162386800-162389400	Enhancers	Dnd41	blood
3	chr3:162388000-162395400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:162388400-162390800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:162389200-162389600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:162389400-162390200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:162389400-162390400	Weak transcription	Dnd41	blood
8	chr3:162389400-162390600	Enhancers	Colon Smooth Muscle	Colon
9	chr3:162389600-162390000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:162389800-162390200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:162389800-162390400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr3:162390000-162390200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:162390000-162390400	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:162390000-162390600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:162390000-162390600	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:162390000-162390800	Enhancers	Fetal Stomach	stomach
17	chr3:162390200-162390600	Enhancers	Ovary	ovary
18	chr3:162390200-162395800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:162390400-162390600	Enhancers	Dnd41	blood
20	chr3:162390800-162396800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:162391600-162392400	Enhancers	Fetal Heart	heart

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