Variant report

Variant	esv3379077
Chromosome Location	chr3:84219312-84222210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 218 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554045421	chr3:84219333-84219334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565902690	chr3:84219387-84219388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112246461	chr3:84219409-84219410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114398534	chr3:84219421-84219422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545263928	chr3:84219433-84219434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565582143	chr3:84219434-84219435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576446078	chr3:84219463-84219464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543616046	chr3:84219513-84219514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113484775	chr3:84219619-84219620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369719754	chr3:84219632-84219633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73123405	chr3:84219642-84219643	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193212092	chr3:84219654-84219655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185644115	chr3:84219659-84219660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527311188	chr3:84219704-84219705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189371038	chr3:84219736-84219737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74560613	chr3:84219791-84219792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531388269	chr3:84219827-84219828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549898504	chr3:84219835-84219836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568302331	chr3:84219879-84219880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544221236	chr3:84219883-84219884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529083229	chr3:84219897-84219898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540748554	chr3:84220020-84220021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547401294	chr3:84220051-84220052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115425787	chr3:84220090-84220091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539463948	chr3:84220093-84220094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77950299	chr3:84220104-84220105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566563001	chr3:84220105-84220106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113787916	chr3:84220111-84220112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73123407	chr3:84220122-84220123	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183966922	chr3:84220123-84220124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140358032	chr3:84220126-84220127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188740817	chr3:84220197-84220198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553406533	chr3:84220212-84220213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548210474	chr3:84220216-84220217	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114278059	chr3:84220224-84220225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13068971	chr3:84220230-84220231	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553497202	chr3:84220247-84220248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs66661584	chr3:84220258-84220259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564156489	chr3:84220270-84220271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576097431	chr3:84220275-84220276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375771508	chr3:84220279-84220280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572294319	chr3:84220301-84220302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368256053	chr3:84220302-84220303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181220490	chr3:84220314-84220315	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149203649	chr3:84220320-84220321	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185713010	chr3:84220323-84220324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547532612	chr3:84220325-84220326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143173777	chr3:84220338-84220339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199962951	chr3:84220343-84220344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200996395	chr3:84220346-84220347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84215200-84248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:84219200-84220400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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