Variant report

Variant	esv1849315
Chromosome Location	chr3:25025216-25031381
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	chr3:25014243..25016013-chr3:25025962..25028034,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9857350	chr3:25025216-25025217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143212329	chr3:25025235-25025236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144491212	chr3:25025253-25025254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560904516	chr3:25025277-25025278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190810749	chr3:25025284-25025285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549849486	chr3:25025352-25025353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563343493	chr3:25025386-25025387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569759773	chr3:25025388-25025389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538747458	chr3:25025396-25025397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372847323	chr3:25025411-25025412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552354334	chr3:25025413-25025414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565761260	chr3:25025436-25025437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534887110	chr3:25025439-25025440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs118170397	chr3:25025443-25025444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574706741	chr3:25025523-25025524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537042520	chr3:25025533-25025534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144406568	chr3:25025555-25025556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148763101	chr3:25025576-25025577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142412696	chr3:25025588-25025589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111970959	chr3:25025592-25025593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182585910	chr3:25025593-25025594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573373408	chr3:25025625-25025626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542443114	chr3:25025653-25025654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386659433	chr3:25025659-25025660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536190425	chr3:25025676-25025677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562222401	chr3:25025689-25025690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187292155	chr3:25025694-25025695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12636044	chr3:25025695-25025696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs73143050	chr3:25025756-25025757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532219839	chr3:25025757-25025758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575828764	chr3:25025813-25025814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12636070	chr3:25025832-25025833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370336215	chr3:25025853-25025854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565804496	chr3:25025868-25025869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150945212	chr3:25025873-25025874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190298620	chr3:25025877-25025878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140775425	chr3:25025878-25025879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13071983	chr3:25025886-25025887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374673741	chr3:25025887-25025888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556886861	chr3:25025901-25025902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570533012	chr3:25025915-25025916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77223018	chr3:25025937-25025938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13072583	chr3:25025949-25025950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553174859	chr3:25025966-25025967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573313916	chr3:25025968-25025969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542048970	chr3:25025975-25025976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555937904	chr3:25026017-25026018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575962759	chr3:25026020-25026021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182366720	chr3:25026023-25026024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544943722	chr3:25026024-25026025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:25025200-25027200	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:25027200-25027400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:25027200-25027400	Enhancers	Fetal Muscle Leg	muscle

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