Variant report

Variant	esv2466211
Chromosome Location	chr3:111243007-111249538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 325 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144254285	chr3:111243028-111243029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150592475	chr3:111243039-111243040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75690075	chr3:111243040-111243041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555917841	chr3:111243067-111243068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184367308	chr3:111243072-111243073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534308612	chr3:111243132-111243133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375923188	chr3:111243158-111243159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563339314	chr3:111243173-111243174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12630746	chr3:111243177-111243178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148742265	chr3:111243186-111243187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547720233	chr3:111243199-111243200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6769311	chr3:111243214-111243215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs189260168	chr3:111243224-111243225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6769389	chr3:111243278-111243279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535255870	chr3:111243293-111243294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529741346	chr3:111243295-111243296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549933052	chr3:111243301-111243302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192895322	chr3:111243312-111243313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531898436	chr3:111243327-111243328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6805275	chr3:111243328-111243329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571843980	chr3:111243331-111243332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147611533	chr3:111243382-111243383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140525450	chr3:111243400-111243401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567677754	chr3:111243422-111243423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373152251	chr3:111243434-111243435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536269024	chr3:111243442-111243443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144489844	chr3:111243449-111243450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs207463537	chr3:111243463-111243464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376708727	chr3:111243480-111243481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113169139	chr3:111243486-111243487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547547709	chr3:111243501-111243502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184919599	chr3:111243502-111243503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147851580	chr3:111243550-111243551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200662252	chr3:111243561-111243562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565928012	chr3:111243577-111243578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564515999	chr3:111243598-111243599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10934099	chr3:111243603-111243604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149875977	chr3:111243617-111243618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144920075	chr3:111243653-111243654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200867117	chr3:111243659-111243660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149055078	chr3:111243671-111243672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563323435	chr3:111243672-111243673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532289914	chr3:111243677-111243678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112369435	chr3:111243697-111243698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113764913	chr3:111243729-111243730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112605544	chr3:111243732-111243733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144688934	chr3:111243762-111243763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386664609	chr3:111243779-111243780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372549526	chr3:111243786-111243787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114680398	chr3:111243791-111243792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111236400-111249600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:111242400-111243600	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:111243200-111243400	Enhancers	Placenta	Placenta
4	chr3:111243400-111244200	Weak transcription	Placenta	Placenta
5	chr3:111243600-111249000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:111244200-111244400	Enhancers	Placenta	Placenta
7	chr3:111245600-111246000	Enhancers	Fetal Thymus	thymus
8	chr3:111249000-111250800	Enhancers	Primary B cells from peripheral blood	blood

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