Variant report

Variant	esv3362710
Chromosome Location	chr3:163871058-163874656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558943024	chr3:163871080-163871081	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572700486	chr3:163871088-163871089	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534595138	chr3:163871097-163871098	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554645569	chr3:163871130-163871131	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190366285	chr3:163871132-163871133	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543570369	chr3:163871140-163871141	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563417039	chr3:163871142-163871143	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536021193	chr3:163871155-163871156	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576929955	chr3:163871163-163871164	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545989585	chr3:163871164-163871165	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12107021	chr3:163871169-163871170	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528433546	chr3:163871178-163871179	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372004983	chr3:163871179-163871180	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1161754	chr3:163871197-163871198	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375133265	chr3:163871222-163871223	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13078359	chr3:163871243-163871244	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1305178	chr3:163871305-163871306	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111875393	chr3:163871320-163871321	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373415617	chr3:163871331-163871332	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530114792	chr3:163871358-163871359	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549837344	chr3:163871359-163871360	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143958678	chr3:163871375-163871376	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540099234	chr3:163871385-163871386	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538807581	chr3:163871417-163871418	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552781688	chr3:163871438-163871439	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199965661	chr3:163871443-163871444	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79101841	chr3:163871451-163871452	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566229562	chr3:163871452-163871453	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112371970	chr3:163871474-163871475	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558343662	chr3:163871479-163871480	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554583448	chr3:163871640-163871641	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201348089	chr3:163871745-163871746	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201623693	chr3:163871747-163871748	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35880180	chr3:163871748-163871749	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373082923	chr3:163871749-163871750	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376575348	chr3:163871750-163871751	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59943971	chr3:163871774-163871775	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556742961	chr3:163871775-163871776	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150377115	chr3:163871784-163871785	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150673226	chr3:163871805-163871806	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192110742	chr3:163871809-163871810	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114093021	chr3:163871822-163871823	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531159212	chr3:163871852-163871853	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543238971	chr3:163871875-163871876	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541752978	chr3:163871881-163871882	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1470799	chr3:163871903-163871904	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs578251050	chr3:163871914-163871915	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533916648	chr3:163871921-163871922	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550150280	chr3:163871951-163871952	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115659399	chr3:163871956-163871957	Strong transcription	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
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
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163870200-163874600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163873400-163873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:163874600-163879600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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