Variant report

Variant	esv3401806
Chromosome Location	chr3:85221262-85223110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180974394	chr3:85221363-85221364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527701788	chr3:85221370-85221371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151103222	chr3:85221378-85221379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575306019	chr3:85221416-85221417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186006061	chr3:85221507-85221508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545917483	chr3:85221511-85221512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191379913	chr3:85221543-85221544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376713582	chr3:85221566-85221567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114377469	chr3:85221613-85221614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556524846	chr3:85221617-85221618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11922154	chr3:85221618-85221619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200542483	chr3:85221665-85221666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114817401	chr3:85221687-85221688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554729265	chr3:85221695-85221696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72907197	chr3:85221696-85221697	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542161468	chr3:85221794-85221795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558482446	chr3:85221850-85221851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201330921	chr3:85221877-85221878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202189985	chr3:85221878-85221879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368965823	chr3:85221930-85221931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183253344	chr3:85221934-85221935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529816432	chr3:85222057-85222058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562047260	chr3:85222065-85222066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373267566	chr3:85222071-85222072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36207776	chr3:85222075-85222076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188414634	chr3:85222080-85222081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1452120	chr3:85222123-85222124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562689828	chr3:85222199-85222200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552153510	chr3:85222200-85222201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564500259	chr3:85222247-85222248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531951378	chr3:85222287-85222288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572891109	chr3:85222303-85222304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550429298	chr3:85222306-85222307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113888467	chr3:85222357-85222358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17022571	chr3:85222380-85222381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541040453	chr3:85222504-85222505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373781374	chr3:85222555-85222556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547973723	chr3:85222605-85222606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111958234	chr3:85222628-85222629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76668519	chr3:85222629-85222630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533871698	chr3:85222632-85222633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117713119	chr3:85222641-85222642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183472799	chr3:85222698-85222699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537777428	chr3:85222712-85222713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75947804	chr3:85222737-85222738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574355766	chr3:85222743-85222744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147938904	chr3:85222827-85222828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559865747	chr3:85222859-85222860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572249565	chr3:85222958-85222959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546267098	chr3:85222967-85222968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85214200-85225600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:85220800-85222000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr3:85222000-85224000	Weak transcription	Brain Angular Gyrus	brain
4	chr3:85223000-85223400	Enhancers	Brain Anterior Caudate	brain
5	chr3:85223000-85223600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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