Variant report

Variant	esv3415754
Chromosome Location	chr3:161461908-161463856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77577064	chr3:161463500-161463501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534689325	chr3:161463534-161463535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531242297	chr3:161463544-161463545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73014592	chr3:161463564-161463565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187959625	chr3:161463568-161463569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs514683	chr3:161463625-161463626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552337708	chr3:161463653-161463654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566234143	chr3:161463669-161463670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181011593	chr3:161463680-161463681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79472201	chr3:161463691-161463692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376896373	chr3:161463698-161463699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576667346	chr3:161463729-161463730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183939766	chr3:161463787-161463788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188663022	chr3:161463804-161463805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537373512	chr3:161463810-161463811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540429160	chr3:161463813-161463814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370862237	chr3:161463831-161463832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577000369	chr3:161463854-161463855	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161463400-161464600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:161463600-161465200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:161463600-161465200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:161463600-161465200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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