Variant report

Variant	esv3406358
Chromosome Location	chr3:163177258-163180356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181237306	chr3:163177263-163177264	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs561360998	chr3:163177303-163177304	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552083835	chr3:163177327-163177328	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186151184	chr3:163177329-163177330	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549338181	chr3:163177516-163177517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562774513	chr3:163177517-163177518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531494577	chr3:163177522-163177523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551618484	chr3:163177581-163177582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373743938	chr3:163177675-163177676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115192417	chr3:163177731-163177732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533917416	chr3:163177736-163177737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1380778	chr3:163177738-163177739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114039252	chr3:163177807-163177808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536547941	chr3:163177816-163177817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150282063	chr3:163177881-163177882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76928522	chr3:163177887-163177888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190461200	chr3:163177906-163177907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138381230	chr3:163177991-163177992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572425373	chr3:163178016-163178017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541547596	chr3:163178036-163178037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544770051	chr3:163178051-163178052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201857376	chr3:163178084-163178085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148830914	chr3:163178099-163178100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574932827	chr3:163178130-163178131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543847595	chr3:163178133-163178134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34631139	chr3:163178175-163178176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562738597	chr3:163178217-163178218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565637195	chr3:163178222-163178223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551265940	chr3:163178268-163178269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183408054	chr3:163178285-163178286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9854562	chr3:163178306-163178307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547518253	chr3:163178343-163178344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567256286	chr3:163178346-163178347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564011452	chr3:163178356-163178357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76813111	chr3:163178379-163178380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141134603	chr3:163178440-163178441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569984685	chr3:163178451-163178452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540645574	chr3:163178454-163178455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538972756	chr3:163178478-163178479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558867013	chr3:163178499-163178500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188055018	chr3:163178530-163178531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9290211	chr3:163178531-163178532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145328161	chr3:163178539-163178540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192279756	chr3:163178557-163178558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2612722	chr3:163178558-163178559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2711773	chr3:163178575-163178576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs137916905	chr3:163178596-163178597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576390994	chr3:163178610-163178611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182695505	chr3:163178621-163178622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374138755	chr3:163178675-163178676	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163169400-163179400	Weak transcription	Aorta	Aorta
2	chr3:163177000-163177400	Active TSS	Hela-S3	cervix
3	chr3:163179200-163180000	Enhancers	Adipose Nuclei	Adipose
4	chr3:163179400-163180000	Enhancers	Aorta	Aorta

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