Variant report

Variant	esv3522122
Chromosome Location	chr3:84228684-84230657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:84215552..84218041-chr3:84230075..84231712,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34478464	chr3:84228726-84228727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143487113	chr3:84228788-84228789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562443080	chr3:84228838-84228839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114239030	chr3:84228854-84228855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182744107	chr3:84228868-84228869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560421401	chr3:84228939-84228940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527456678	chr3:84228956-84228957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552518503	chr3:84228958-84228959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145894162	chr3:84228974-84228975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187875460	chr3:84228990-84228991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556813295	chr3:84229002-84229003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542504741	chr3:84229015-84229016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78632751	chr3:84229016-84229017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542177608	chr3:84229098-84229099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377718146	chr3:84229141-84229142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530967385	chr3:84229147-84229148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559189694	chr3:84229164-84229165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192557163	chr3:84229193-84229194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553954252	chr3:84229208-84229209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545893548	chr3:84229238-84229239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528164775	chr3:84229244-84229245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541281019	chr3:84229279-84229280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572325820	chr3:84229303-84229304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539609326	chr3:84229359-84229360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7639920	chr3:84229385-84229386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576278806	chr3:84229403-84229404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543753555	chr3:84229443-84229444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533545306	chr3:84229449-84229450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562542174	chr3:84229477-84229478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564939366	chr3:84229536-84229537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184941243	chr3:84229569-84229570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188259813	chr3:84229586-84229587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570353974	chr3:84229619-84229620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527493718	chr3:84229632-84229633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138755367	chr3:84229639-84229640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62254587	chr3:84229659-84229660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149241474	chr3:84229678-84229679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549793272	chr3:84229701-84229702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568472502	chr3:84229707-84229708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535451028	chr3:84229718-84229719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547499133	chr3:84229732-84229733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565792989	chr3:84229752-84229753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144465311	chr3:84229762-84229763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549312959	chr3:84229779-84229780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192298980	chr3:84229815-84229816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565349902	chr3:84229846-84229847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374227374	chr3:84229847-84229848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75004805	chr3:84229855-84229856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375793273	chr3:84229856-84229857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184884005	chr3:84229861-84229862	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84215200-84248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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