Variant report

Variant	nsv980051
Chromosome Location	chr3:28821534-28825157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146961997	chr3:28821590-28821591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9862394	chr3:28821645-28821646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183172286	chr3:28821647-28821648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546731642	chr3:28821672-28821673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576471382	chr3:28821678-28821679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187290950	chr3:28821710-28821711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192028583	chr3:28821715-28821716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555614999	chr3:28821809-28821810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137999052	chr3:28821903-28821904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141987445	chr3:28821904-28821905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376934327	chr3:28821911-28821912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9862861	chr3:28821970-28821971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs578138866	chr3:28821971-28821972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553585899	chr3:28821976-28821977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540313655	chr3:28821991-28821992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560317007	chr3:28822014-28822015	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573650322	chr3:28822033-28822034	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558877321	chr3:28822053-28822054	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184627096	chr3:28822055-28822056	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575513500	chr3:28822087-28822088	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562601600	chr3:28822116-28822117	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531639092	chr3:28822126-28822127	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73068851	chr3:28822138-28822139	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573507413	chr3:28822170-28822171	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78055358	chr3:28822175-28822176	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs207463081	chr3:28822184-28822185	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140967936	chr3:28822197-28822198	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546670130	chr3:28822222-28822223	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566648468	chr3:28822239-28822240	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62244484	chr3:28822253-28822254	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143024813	chr3:28822302-28822303	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569201109	chr3:28822331-28822332	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538519033	chr3:28822347-28822348	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189289039	chr3:28822385-28822386	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578107092	chr3:28822403-28822404	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148282843	chr3:28822405-28822406	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375084258	chr3:28822421-28822422	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553874893	chr3:28822437-28822438	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573782141	chr3:28822495-28822496	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116640495	chr3:28822559-28822560	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193264944	chr3:28822576-28822577	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540829581	chr3:28822589-28822590	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6780688	chr3:28822656-28822657	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545264557	chr3:28822701-28822702	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141355028	chr3:28822731-28822732	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150363876	chr3:28822771-28822772	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539701446	chr3:28822777-28822778	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540846335	chr3:28822778-28822779	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185720738	chr3:28822795-28822796	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138046072	chr3:28822858-28822859	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28819000-28822800	Weak transcription	Fetal Intestine Large	intestine
2	chr3:28820000-28822000	Weak transcription	Fetal Heart	heart
3	chr3:28822000-28822200	Enhancers	Fetal Heart	heart
4	chr3:28822000-28823000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:28822200-28822600	Weak transcription	Fetal Heart	heart
6	chr3:28822600-28823000	Enhancers	Fetal Heart	heart
7	chr3:28822800-28823000	Enhancers	Fetal Intestine Large	intestine

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