Variant report

Variant	esv3462203
Chromosome Location	chr3:99243190-99244924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533526994	chr3:99243196-99243197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554956896	chr3:99243217-99243218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148915363	chr3:99243241-99243242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563665514	chr3:99243275-99243276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143580268	chr3:99243283-99243284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556043713	chr3:99243285-99243286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577759585	chr3:99243305-99243306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192437714	chr3:99243324-99243325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184797623	chr3:99243367-99243368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs67838133	chr3:99243449-99243450	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371111456	chr3:99243456-99243457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188824926	chr3:99243507-99243508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528656425	chr3:99243524-99243525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561358760	chr3:99243584-99243585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1513298	chr3:99243633-99243634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182040176	chr3:99243667-99243668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565280086	chr3:99243677-99243678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556216361	chr3:99243715-99243716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34379072	chr3:99243727-99243728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115257495	chr3:99243739-99243740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199850582	chr3:99243750-99243751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559582281	chr3:99243764-99243765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376678955	chr3:99243790-99243791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189845888	chr3:99243837-99243838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532308944	chr3:99243872-99243873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181444111	chr3:99243885-99243886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567263915	chr3:99243937-99243938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185270101	chr3:99243952-99243953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549846446	chr3:99244013-99244014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571283482	chr3:99244029-99244030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537459879	chr3:99244037-99244038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116029058	chr3:99244038-99244039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554026118	chr3:99244080-99244081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76296178	chr3:99244098-99244099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536555565	chr3:99244131-99244132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554629215	chr3:99244144-99244145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527719940	chr3:99244145-99244146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12631180	chr3:99244147-99244148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565360855	chr3:99244157-99244158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189978078	chr3:99244184-99244185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539596575	chr3:99244187-99244188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558521822	chr3:99244193-99244194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73134339	chr3:99244237-99244238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150987037	chr3:99244240-99244241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111314548	chr3:99244264-99244265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559522864	chr3:99244278-99244279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371024032	chr3:99244305-99244306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548853001	chr3:99244306-99244307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115968707	chr3:99244316-99244317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531315127	chr3:99244354-99244355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99241800-99245800	Weak transcription	Fetal Heart	heart
2	chr3:99242000-99243400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:99242200-99243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:99242400-99243400	Enhancers	NHDF-Ad	bronchial
5	chr3:99242600-99246000	Weak transcription	HSMMtube	muscle
6	chr3:99242600-99254000	Weak transcription	HUVEC	blood vessel
7	chr3:99243000-99243200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:99243000-99243200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:99243000-99243400	Enhancers	Aorta	Aorta
10	chr3:99243200-99243400	Enhancers	Osteobl	bone
11	chr3:99243400-99243600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:99243400-99243600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:99243400-99245600	Weak transcription	Aorta	Aorta
14	chr3:99243400-99246000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:99243400-99248400	Weak transcription	NHDF-Ad	bronchial
16	chr3:99243400-99251000	Weak transcription	Osteobl	bone
17	chr3:99243600-99247800	Weak transcription	Muscle Satellite Cultured Cells	--

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