Variant report

Variant	esv3444823
Chromosome Location	chr3:84718462-84721260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:84716502..84719314-chr3:84721003..84723364,2	K562	blood:
2	chr3:84716502..84719314-chr3:84721003..84723364,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VGLL3-6	chr3:84720735-84720854	ENSG00000242641.1
2	lnc-VGLL3-6	chr3:84715551-84719007	NONHSAT090649
3	lnc-VGLL3-6	chr3:84720735-84720854	NONHSAT090649
4	lnc-VGLL3-6	chr3:84715551-84719007	ENSG00000242641.1

No data

Extended variants
information (count: 64 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62255480	chr3:84718471-84718472	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144616355	chr3:84718482-84718483	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs138734033	chr3:84718505-84718506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs527448306	chr3:84718517-84718518	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs9839313	chr3:84718534-84718535	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185584000	chr3:84718545-84718546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs547451152	chr3:84718555-84718556	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs542729607	chr3:84718636-84718637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs566111280	chr3:84718727-84718728	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs539733697	chr3:84718745-84718746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs558038212	chr3:84718776-84718777	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs372929589	chr3:84718791-84718792	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs368486252	chr3:84718835-84718836	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs576182536	chr3:84718854-84718855	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs143549132	chr3:84718866-84718867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs555575976	chr3:84718903-84718904	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs559771309	chr3:84718922-84718923	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs574429146	chr3:84718945-84718946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs541956012	chr3:84718949-84718950	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs148041251	chr3:84718954-84718955	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs572019380	chr3:84718956-84718957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs546076325	chr3:84718982-84718983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs111791869	chr3:84720221-84720222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192416805	chr3:84720281-84720282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111995901	chr3:84720295-84720296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183805270	chr3:84720319-84720320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553549511	chr3:84720322-84720323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565755477	chr3:84720356-84720357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9830050	chr3:84720360-84720361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557785696	chr3:84720362-84720363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186710154	chr3:84720369-84720370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62255481	chr3:84720376-84720377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543695127	chr3:84720409-84720410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555638509	chr3:84720438-84720439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9830231	chr3:84720461-84720462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541204981	chr3:84720469-84720470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369919921	chr3:84720509-84720510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189599726	chr3:84720513-84720514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141014117	chr3:84720534-84720535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545138080	chr3:84720540-84720541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563301175	chr3:84720551-84720552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530815501	chr3:84720565-84720566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549380399	chr3:84720566-84720567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182534033	chr3:84720586-84720587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143366117	chr3:84720609-84720610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547152201	chr3:84720616-84720617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571797529	chr3:84720636-84720637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539532555	chr3:84720675-84720676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144775214	chr3:84720745-84720746	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs569624475	chr3:84720865-84720866	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Lung squamous cell carcinoma	22363434	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84720200-84722000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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