Variant report

Variant	esv3379291
Chromosome Location	chr3:89270662-89272710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532998655	chr3:89270732-89270733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6551408	chr3:89270738-89270739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571017942	chr3:89270749-89270750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538194076	chr3:89270781-89270782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371585074	chr3:89270873-89270874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13083092	chr3:89270883-89270884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs148548538	chr3:89270964-89270965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535473700	chr3:89270975-89270976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116104365	chr3:89271059-89271060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35445148	chr3:89271078-89271079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539881959	chr3:89271081-89271082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6804377	chr3:89271087-89271088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576298978	chr3:89271120-89271121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114068581	chr3:89271133-89271134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144006341	chr3:89271143-89271144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147315934	chr3:89271164-89271165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566150036	chr3:89271193-89271194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559262462	chr3:89271227-89271228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532928352	chr3:89271242-89271243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73849209	chr3:89271253-89271254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540359340	chr3:89271288-89271289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528726915	chr3:89271366-89271367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373125634	chr3:89271379-89271380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62274654	chr3:89271419-89271420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571577520	chr3:89271423-89271424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34438291	chr3:89271477-89271478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200719487	chr3:89271480-89271481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62274655	chr3:89271482-89271483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201898022	chr3:89271490-89271491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74928533	chr3:89271497-89271498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112236133	chr3:89271499-89271500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397990508	chr3:89271501-89271502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568436166	chr3:89271517-89271518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529047343	chr3:89271518-89271519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28545288	chr3:89271538-89271539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547484181	chr3:89271551-89271552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566055961	chr3:89271567-89271568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371541812	chr3:89271593-89271594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6796573	chr3:89271646-89271647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558206801	chr3:89271658-89271659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550776228	chr3:89271683-89271684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576338258	chr3:89271702-89271703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193097408	chr3:89271704-89271705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185862988	chr3:89271738-89271739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12496279	chr3:89271769-89271770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189428892	chr3:89271810-89271811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559133848	chr3:89271912-89271913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9873281	chr3:89271917-89271918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557658608	chr3:89271943-89271944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62274656	chr3:89271959-89271960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	19651600	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Obesity	19966786	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89263600-89277000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:89266200-89272200	Weak transcription	Fetal Brain Male	brain
3	chr3:89266400-89277800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:89270200-89270800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:89270400-89271400	Enhancers	Fetal Brain Female	brain
6	chr3:89271400-89277800	Weak transcription	Fetal Brain Female	brain
7	chr3:89271600-89277400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:89272200-89272800	Enhancers	Fetal Brain Male	brain

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