Variant report

Variant	esv3392013
Chromosome Location	chr3:88694462-88695560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189147558	chr3:88694526-88694527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550946390	chr3:88694543-88694544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540199778	chr3:88694552-88694553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565157232	chr3:88694580-88694581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143203549	chr3:88694626-88694627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143842161	chr3:88694649-88694650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181042392	chr3:88694707-88694708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563036333	chr3:88694709-88694710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs5850864	chr3:88694752-88694753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13069598	chr3:88694762-88694763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13318966	chr3:88694765-88694766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548430325	chr3:88694794-88694795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13315689	chr3:88694820-88694821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13315694	chr3:88694823-88694824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372478404	chr3:88694833-88694834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560844285	chr3:88694843-88694844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12714721	chr3:88694844-88694845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375363823	chr3:88694846-88694847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71101609	chr3:88694851-88694852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373849743	chr3:88694852-88694853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368339446	chr3:88694859-88694860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12489951	chr3:88694863-88694864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371802981	chr3:88694866-88694867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374952749	chr3:88694869-88694870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7434168	chr3:88694879-88694880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12489954	chr3:88694885-88694886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190927820	chr3:88694888-88694889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552158462	chr3:88694889-88694890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570364063	chr3:88694899-88694900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12489956	chr3:88694905-88694906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537888661	chr3:88694908-88694909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200535109	chr3:88694920-88694921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12486989	chr3:88694943-88694944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139094384	chr3:88694959-88694960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13089927	chr3:88694966-88694967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536434966	chr3:88694983-88694984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149813962	chr3:88695003-88695004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117266076	chr3:88695011-88695012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183451899	chr3:88695019-88695020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186042912	chr3:88695083-88695084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577156132	chr3:88695092-88695093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549337205	chr3:88695133-88695134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201936740	chr3:88695136-88695137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200275556	chr3:88695137-88695138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78733666	chr3:88695138-88695139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201507047	chr3:88695146-88695147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56076642	chr3:88695168-88695169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542019585	chr3:88695180-88695181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182985734	chr3:88695192-88695193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188428892	chr3:88695230-88695231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88689600-88709800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:88691400-88699400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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