Variant report

Variant	esv2034625
Chromosome Location	chr3:161768909-161769333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4340718	chr3:161768924-161768925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74818975	chr3:161768959-161768960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115264970	chr3:161768966-161768967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576344837	chr3:161768973-161768974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141036234	chr3:161768997-161768998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76755745	chr3:161769000-161769001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113525673	chr3:161769008-161769009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs398062976	chr3:161769012-161769013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180808857	chr3:161769036-161769037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79408595	chr3:161769037-161769038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546246699	chr3:161769041-161769042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532396678	chr3:161769056-161769057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62278865	chr3:161769057-161769058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4611839	chr3:161769064-161769065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577696515	chr3:161769067-161769068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62278866	chr3:161769072-161769073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62278867	chr3:161769083-161769084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62278868	chr3:161769085-161769086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62278869	chr3:161769089-161769090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62278870	chr3:161769097-161769098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185255084	chr3:161769103-161769104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148729312	chr3:161769111-161769112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562035222	chr3:161769131-161769132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531037264	chr3:161769145-161769146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71151760	chr3:161769162-161769163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545146363	chr3:161769174-161769175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563133472	chr3:161769181-161769182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6800261	chr3:161769193-161769194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564667033	chr3:161769203-161769204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190022090	chr3:161769233-161769234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182648356	chr3:161769234-161769235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552200968	chr3:161769235-161769236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386667671	chr3:161769251-161769252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373047809	chr3:161769252-161769253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546557331	chr3:161769272-161769273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145058929	chr3:161769309-161769310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566135879	chr3:161769313-161769314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138902241	chr3:161769314-161769315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114152621	chr3:161769321-161769322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161766600-161771000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:161768000-161769000	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links