Variant report

Variant	esv2572173
Chromosome Location	chr3:99242379-99245339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560491056	chr3:99242405-99242406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527745680	chr3:99242406-99242407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549490343	chr3:99242455-99242456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534992513	chr3:99242465-99242466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572205047	chr3:99242466-99242467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567808753	chr3:99242474-99242475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553582861	chr3:99242528-99242529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73858578	chr3:99242531-99242532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550386340	chr3:99242555-99242556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188311460	chr3:99242560-99242561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539343281	chr3:99242561-99242562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557287265	chr3:99242602-99242603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2342597	chr3:99242621-99242622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533586260	chr3:99242632-99242633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192147950	chr3:99242645-99242646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573712855	chr3:99242710-99242711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114719403	chr3:99242716-99242717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184464195	chr3:99242731-99242732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563410789	chr3:99242747-99242748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376165370	chr3:99242810-99242811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72620016	chr3:99242820-99242821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574787326	chr3:99242840-99242841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560475842	chr3:99242858-99242859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527684363	chr3:99242872-99242873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543074230	chr3:99242905-99242906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188318334	chr3:99243012-99243013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35877265	chr3:99243058-99243059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71130080	chr3:99243078-99243079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537505848	chr3:99243082-99243083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3033266	chr3:99243093-99243094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531850295	chr3:99243098-99243099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57387326	chr3:99243100-99243101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397990619	chr3:99243102-99243103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550081013	chr3:99243113-99243114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199630338	chr3:99243114-99243115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372480127	chr3:99243115-99243116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571817614	chr3:99243116-99243117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532657203	chr3:99243130-99243131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145704671	chr3:99243131-99243132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386663842	chr3:99243132-99243133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71313555	chr3:99243135-99243136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542195210	chr3:99243145-99243146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72926489	chr3:99243146-99243147	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533526994	chr3:99243196-99243197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554956896	chr3:99243217-99243218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148915363	chr3:99243241-99243242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563665514	chr3:99243275-99243276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143580268	chr3:99243283-99243284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556043713	chr3:99243285-99243286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577759585	chr3:99243305-99243306	Weak transcription Enhancers	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99228400-99243000	Weak transcription	Aorta	Aorta
2	chr3:99238200-99242400	Weak transcription	NHDF-Ad	bronchial
3	chr3:99239600-99243000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:99241800-99245800	Weak transcription	Fetal Heart	heart
5	chr3:99242000-99243400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:99242200-99242600	Enhancers	HSMMtube	muscle
7	chr3:99242200-99242600	Enhancers	HUVEC	blood vessel
8	chr3:99242200-99243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:99242400-99243400	Enhancers	NHDF-Ad	bronchial
10	chr3:99242600-99246000	Weak transcription	HSMMtube	muscle
11	chr3:99242600-99254000	Weak transcription	HUVEC	blood vessel
12	chr3:99243000-99243200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:99243000-99243200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:99243000-99243400	Enhancers	Aorta	Aorta
15	chr3:99243200-99243400	Enhancers	Osteobl	bone
16	chr3:99243400-99243600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:99243400-99243600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:99243400-99245600	Weak transcription	Aorta	Aorta
19	chr3:99243400-99246000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:99243400-99248400	Weak transcription	NHDF-Ad	bronchial
21	chr3:99243400-99251000	Weak transcription	Osteobl	bone
22	chr3:99243600-99247800	Weak transcription	Muscle Satellite Cultured Cells	--

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