Variant report

Variant	esv3429581
Chromosome Location	chr3:163282158-163285756
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	chr3:163279842..163282789-chr3:163286166..163287961,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368018246	chr3:163282163-163282164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140162323	chr3:163282167-163282168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182343809	chr3:163282191-163282192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10513599	chr3:163282204-163282205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186670243	chr3:163282221-163282222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530281457	chr3:163282254-163282255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549970282	chr3:163282272-163282273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569952603	chr3:163282327-163282328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74642318	chr3:163282330-163282331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143945986	chr3:163282331-163282332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146182310	chr3:163282336-163282337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558381176	chr3:163282345-163282346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191783510	chr3:163282346-163282347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573993967	chr3:163282379-163282380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536591125	chr3:163282403-163282404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373974269	chr3:163282404-163282405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545220105	chr3:163282436-163282437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576334229	chr3:163282437-163282438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183120875	chr3:163282442-163282443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35410746	chr3:163282474-163282475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564846112	chr3:163282496-163282497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149900958	chr3:163282537-163282538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144930386	chr3:163282547-163282548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560505052	chr3:163282596-163282597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542954401	chr3:163282604-163282605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187954680	chr3:163282620-163282621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113223174	chr3:163282650-163282651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561622997	chr3:163282689-163282690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114501886	chr3:163282762-163282763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376347922	chr3:163282770-163282771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563617914	chr3:163282771-163282772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532629162	chr3:163282772-163282773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193202886	chr3:163282773-163282774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149065141	chr3:163282789-163282790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535076979	chr3:163282798-163282799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142141993	chr3:163282928-163282929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185093359	chr3:163282939-163282940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537421305	chr3:163282966-163282967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55890411	chr3:163282991-163282992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189461824	chr3:163282992-163282993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371574144	chr3:163283024-163283025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538482374	chr3:163283051-163283052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558674317	chr3:163283052-163283053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62294704	chr3:163283081-163283082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56395077	chr3:163283101-163283102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541158177	chr3:163283127-163283128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147834541	chr3:163283137-163283138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141435515	chr3:163283138-163283139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559703440	chr3:163283145-163283146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551070500	chr3:163283163-163283164	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
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
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163281800-163284000	Weak transcription	Hela-S3	cervix

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