Variant report

Variant	nsv520551
Chromosome Location	chr3:23115291-23120060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:23116087..23118442-chr3:23134310..23136828,2	MCF-7	breast:
2	chr3:23119484..23121007-chr3:23156209..23158438,2	MCF-7	breast:
3	chr3:23117260..23119971-chr3:23124072..23125615,2	K562	blood:

Extended variants
information (count: 205 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9828558	chr3:23115291-23115292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139047770	chr3:23115305-23115306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545934625	chr3:23115310-23115311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375923181	chr3:23115384-23115385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371808978	chr3:23115391-23115392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151246740	chr3:23115393-23115394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369244765	chr3:23115411-23115412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191885634	chr3:23115422-23115423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568756896	chr3:23115440-23115441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183027764	chr3:23115478-23115479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551203692	chr3:23115499-23115500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368884964	chr3:23115508-23115509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556019339	chr3:23115519-23115520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569510143	chr3:23115527-23115528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139321053	chr3:23115544-23115545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557864239	chr3:23115545-23115546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150005215	chr3:23115559-23115560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533802094	chr3:23115582-23115583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111381416	chr3:23115613-23115614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573882965	chr3:23115629-23115630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544061599	chr3:23115630-23115631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556032102	chr3:23115660-23115661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544597277	chr3:23115665-23115666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544787501	chr3:23115674-23115675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187558648	chr3:23115704-23115705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1825521	chr3:23115737-23115738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs77647185	chr3:23115754-23115755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533481108	chr3:23115772-23115773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561890495	chr3:23115778-23115779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191121334	chr3:23115783-23115784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551340850	chr3:23115907-23115908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563152503	chr3:23115910-23115911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183992678	chr3:23115920-23115921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142508927	chr3:23115921-23115922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566586487	chr3:23115924-23115925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369583991	chr3:23115989-23115990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533608980	chr3:23116017-23116018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78470464	chr3:23116020-23116021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566964358	chr3:23116041-23116042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540716751	chr3:23116043-23116044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537446447	chr3:23116056-23116057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186902012	chr3:23116059-23116060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577478245	chr3:23116078-23116079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538465781	chr3:23116093-23116094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75690615	chr3:23116109-23116110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201384329	chr3:23116179-23116180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567854031	chr3:23116184-23116185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370695080	chr3:23116220-23116221	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs146905268	chr3:23116262-23116263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs540412488	chr3:23116283-23116284	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23105000-23121400	Weak transcription	Psoas Muscle	Psoas
2	chr3:23108400-23115600	Weak transcription	Fetal Lung	lung
3	chr3:23108800-23115800	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:23110400-23119200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:23110400-23119400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:23111000-23119000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:23111600-23115400	Enhancers	Primary hematopoietic stem cells	blood
8	chr3:23112200-23115400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:23112800-23116400	Weak transcription	Adipose Nuclei	Adipose
10	chr3:23113200-23115600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:23113600-23119400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:23114400-23118000	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:23115000-23118800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:23115000-23121400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:23115200-23115400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:23115200-23119400	Enhancers	HSMMtube	muscle
17	chr3:23115400-23118400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:23115400-23118600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:23115600-23116600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:23115600-23118600	Enhancers	Fetal Lung	lung
21	chr3:23115800-23121000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:23116200-23116400	Enhancers	Fetal Kidney	kidney
23	chr3:23116200-23116600	Bivalent Enhancer	HSMM	muscle
24	chr3:23116200-23117800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:23116200-23118400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:23116200-23118600	Enhancers	Fetal Heart	heart
27	chr3:23116400-23117000	Weak transcription	Fetal Kidney	kidney
28	chr3:23116400-23118400	Enhancers	Adipose Nuclei	Adipose
29	chr3:23116600-23117000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:23116600-23117200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:23116600-23118000	Enhancers	HSMM	muscle
32	chr3:23116800-23118200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:23116800-23118400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:23117000-23117200	Enhancers	Fetal Kidney	kidney
35	chr3:23117000-23117200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr3:23117000-23117400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr3:23117000-23117400	Enhancers	Stomach Smooth Muscle	stomach
38	chr3:23117000-23117600	Enhancers	Colon Smooth Muscle	Colon
39	chr3:23117000-23117600	Enhancers	Rectal Smooth Muscle	rectum
40	chr3:23117000-23118400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:23117200-23117600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:23117200-23121000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:23117200-23121400	Weak transcription	Fetal Kidney	kidney
44	chr3:23117400-23121400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr3:23117400-23121400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:23117600-23118400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:23117600-23121400	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:23118000-23118600	Enhancers	Aorta	Aorta
49	chr3:23118000-23119200	Enhancers	Fetal Muscle Leg	muscle
50	chr3:23118000-23119200	Bivalent Enhancer	HSMM	muscle

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