Variant report

Variant	esv3334960
Chromosome Location	chr3:84000112-84002210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200313086	chr3:84000112-84000113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538873607	chr3:84000114-84000115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557603177	chr3:84000146-84000147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139798549	chr3:84000151-84000152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538937551	chr3:84000153-84000154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201687677	chr3:84000159-84000160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559496774	chr3:84000169-84000170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543375632	chr3:84000212-84000213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144640726	chr3:84000217-84000218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188478179	chr3:84000234-84000235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573723568	chr3:84000241-84000242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548747755	chr3:84000286-84000287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559191673	chr3:84000287-84000288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533117859	chr3:84000314-84000315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544899194	chr3:84000323-84000324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12635815	chr3:84000331-84000332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74397234	chr3:84000357-84000358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560399101	chr3:84000359-84000360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191757305	chr3:84000390-84000391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548907313	chr3:84000394-84000395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35937777	chr3:84000490-84000491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567320108	chr3:84000520-84000521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533116083	chr3:84000524-84000525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184010314	chr3:84000562-84000563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571670487	chr3:84000567-84000568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539149620	chr3:84000754-84000755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557255888	chr3:84000770-84000771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569475583	chr3:84000785-84000786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189861699	chr3:84000871-84000872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555302183	chr3:84000898-84000899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573637573	chr3:84000932-84000933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112873405	chr3:84001046-84001047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374792178	chr3:84001064-84001065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200908693	chr3:84001067-84001068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202241019	chr3:84001077-84001078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543374359	chr3:84001104-84001105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541041168	chr3:84001284-84001285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181567871	chr3:84001292-84001293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577644811	chr3:84001305-84001306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545125703	chr3:84001309-84001310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60782369	chr3:84001314-84001315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112528914	chr3:84001315-84001316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59116283	chr3:84001321-84001322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563530060	chr3:84001343-84001344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542467422	chr3:84001350-84001351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187029962	chr3:84001392-84001393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13316809	chr3:84001493-84001494	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546655005	chr3:84001494-84001495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571648631	chr3:84001503-84001504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532490953	chr3:84001520-84001521	Enhancers 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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83996200-84001400	Weak transcription	Hela-S3	cervix
2	chr3:83998200-84001400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:83998600-84001200	Weak transcription	Fetal Heart	heart
4	chr3:83998600-84001800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:84001200-84002400	Enhancers	Fetal Heart	heart
6	chr3:84001200-84003400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:84001400-84002400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:84001400-84003000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:84001400-84003000	Enhancers	Hela-S3	cervix
10	chr3:84001800-84002600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:84002000-84002400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:84002200-84002600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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