Variant report

Variant	esv3359678
Chromosome Location	chr3:111551287-111553835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79450700	chr3:111551302-111551303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561403720	chr3:111551308-111551309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531727578	chr3:111551322-111551323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186546013	chr3:111551363-111551364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72936500	chr3:111551382-111551383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191356527	chr3:111551400-111551401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532319734	chr3:111551423-111551424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76359849	chr3:111551472-111551473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62280075	chr3:111551503-111551504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149764190	chr3:111551529-111551530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184958506	chr3:111551534-111551535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367657994	chr3:111551535-111551536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111899743	chr3:111551538-111551539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568461288	chr3:111551561-111551562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145375498	chr3:111551646-111551647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189765508	chr3:111551647-111551648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62644681	chr3:111551650-111551651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188780892	chr3:111551659-111551660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193142299	chr3:111551664-111551665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183597905	chr3:111551673-111551674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62644682	chr3:111551676-111551677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191873312	chr3:111551699-111551700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568183844	chr3:111551724-111551725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536728158	chr3:111551725-111551726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371403622	chr3:111551735-111551736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184259923	chr3:111551749-111551750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188155692	chr3:111551752-111551753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191471150	chr3:111551775-111551776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184738589	chr3:111551778-111551779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190581879	chr3:111551801-111551802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556766414	chr3:111551804-111551805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539352874	chr3:111551805-111551806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377010193	chr3:111551813-111551814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370368309	chr3:111551839-111551840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374747028	chr3:111551865-111551866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368125419	chr3:111551891-111551892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559245407	chr3:111551957-111551958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572492227	chr3:111552099-111552100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181817719	chr3:111552376-111552377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186927654	chr3:111552377-111552378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374830110	chr3:111552381-111552382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190314775	chr3:111552383-111552384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181065026	chr3:111552385-111552386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185498760	chr3:111552402-111552403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369808402	chr3:111552407-111552408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189527398	chr3:111552409-111552410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181015011	chr3:111552411-111552412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370934473	chr3:111552428-111552429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372325358	chr3:111552433-111552434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187344759	chr3:111552435-111552436	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111541200-111577600	Weak transcription	Pancreas	Pancrea
2	chr3:111544400-111556800	Weak transcription	Liver	Liver
3	chr3:111547600-111556800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:111550400-111551400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:111550400-111551400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:111550600-111551400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr3:111550600-111551400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:111550600-111551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:111550600-111551400	Enhancers	Dnd41	blood
10	chr3:111550600-111551400	Enhancers	Osteobl	bone
11	chr3:111550800-111551400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:111551200-111556200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:111551400-111564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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