Variant report

Variant	esv1805787
Chromosome Location	chr3:82863216-82910711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116398044	chr3:82863819-82863820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534180218	chr3:82863848-82863849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547949817	chr3:82863860-82863861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12492495	chr3:82863870-82863871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536703799	chr3:82863872-82863873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111929299	chr3:82863890-82863891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569797968	chr3:82863892-82863893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548479743	chr3:82863936-82863937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558427429	chr3:82863949-82863950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144209351	chr3:82863986-82863987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540634979	chr3:82864006-82864007	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554503338	chr3:82864017-82864018	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574471933	chr3:82864022-82864023	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543473755	chr3:82864025-82864026	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562976720	chr3:82864037-82864038	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188633309	chr3:82864045-82864046	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554500716	chr3:82864058-82864059	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565566489	chr3:82864098-82864099	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527946124	chr3:82864105-82864106	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146538259	chr3:82864129-82864130	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567622419	chr3:82864230-82864231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377143125	chr3:82864243-82864244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530150440	chr3:82864244-82864245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192142725	chr3:82864249-82864250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140091338	chr3:82864250-82864251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538438899	chr3:82864273-82864274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558291291	chr3:82864315-82864316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574506824	chr3:82864329-82864330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143677036	chr3:82864333-82864334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377647611	chr3:82864350-82864351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534579501	chr3:82864364-82864365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183080385	chr3:82864368-82864369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187848842	chr3:82864389-82864390	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534000051	chr3:82864485-82864486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574360774	chr3:82864496-82864497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530396631	chr3:82864502-82864503	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543184025	chr3:82864526-82864527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557014305	chr3:82864540-82864541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146859386	chr3:82864584-82864585	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545623912	chr3:82864598-82864599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148980000	chr3:82864627-82864628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554215469	chr3:82864638-82864639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528013964	chr3:82864667-82864668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112526543	chr3:82864681-82864682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192635049	chr3:82864690-82864691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183544732	chr3:82864695-82864696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371167049	chr3:82864699-82864700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151118999	chr3:82864714-82864715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189349877	chr3:82864731-82864732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532423184	chr3:82864733-82864734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Splenic marginal zone lymphoma	21957467	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82863800-82864800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:82864000-82864200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:82864000-82864400	ZNF genes & repeats	Dnd41	blood
4	chr3:82864000-82865000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:82864000-82865200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:82864200-82865000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:82876000-82876200	Enhancers	Aorta	Aorta
8	chr3:82885400-82885800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:82885400-82886000	Enhancers	HUES48 Cell Line	embryonic stem cell

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