Variant report

Variant	esv2108598
Chromosome Location	chr3:162408106-162408810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560368678	chr3:162408169-162408170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528304575	chr3:162408194-162408195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145811525	chr3:162408195-162408196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138422391	chr3:162408222-162408223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371552803	chr3:162408233-162408234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7646046	chr3:162408252-162408253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7646137	chr3:162408311-162408312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199669459	chr3:162408313-162408314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200726596	chr3:162408317-162408318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201912938	chr3:162408318-162408319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373307783	chr3:162408324-162408325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367969465	chr3:162408371-162408372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550886617	chr3:162408434-162408435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570472765	chr3:162408435-162408436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539038983	chr3:162408487-162408488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192673835	chr3:162408594-162408595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375002272	chr3:162408611-162408612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199907929	chr3:162408612-162408613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546706767	chr3:162408615-162408616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371910556	chr3:162408616-162408617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566411060	chr3:162408690-162408691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535674556	chr3:162408694-162408695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555491929	chr3:162408722-162408723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543039901	chr3:162408725-162408726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560390048	chr3:162408745-162408746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117645616	chr3:162408756-162408757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73010366	chr3:162408763-162408764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182741345	chr3:162408768-162408769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143537307	chr3:162408784-162408785	Enhancers	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162407400-162408800	Enhancers	Dnd41	blood
2	chr3:162408800-162413800	Weak transcription	Dnd41	blood

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