Variant report

Variant	nsv595414
Chromosome Location	chr4:130983055-131024471
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	chr4:130964047..130965735-chr4:130986640..130988918,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf33-6	chr4:131003173-131003373	ucscGeneNc_uc003igw_1

Extended variants
information (count: 1340 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1340 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550477147	chr4:130988214-130988215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72928857	chr4:130988264-130988265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536271620	chr4:130988332-130988333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140997637	chr4:130988373-130988374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566600770	chr4:130988374-130988375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573018120	chr4:130988380-130988381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533866743	chr4:130988397-130988398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28438639	chr4:130988442-130988443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555082703	chr4:130988457-130988458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539204868	chr4:130988471-130988472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574718056	chr4:130988554-130988555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376492436	chr4:130988570-130988571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543881971	chr4:130988578-130988579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143425291	chr4:130988580-130988581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575828486	chr4:130988588-130988589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559655785	chr4:130988639-130988640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373490335	chr4:130988708-130988709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371284657	chr4:130988718-130988719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573048100	chr4:130988773-130988774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78405599	chr4:130988815-130988816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374240485	chr4:130988872-130988873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535964084	chr4:130988897-130988898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146726073	chr4:130988919-130988920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550479663	chr4:130988954-130988955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569070552	chr4:130988968-130988969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562834367	chr4:130988981-130988982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13112908	chr4:130989008-130989009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140371517	chr4:130989055-130989056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532811094	chr4:130989075-130989076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10018160	chr4:130989079-130989080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192436222	chr4:130989129-130989130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559662151	chr4:130989153-130989154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185605220	chr4:130989195-130989196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189302409	chr4:130989211-130989212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557257847	chr4:130989239-130989240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575934498	chr4:130989242-130989243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78167409	chr4:130989247-130989248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367827986	chr4:130989427-130989428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572916476	chr4:130989429-130989430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540205773	chr4:130989455-130989456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565065255	chr4:130989458-130989459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145574800	chr4:130989462-130989463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73846954	chr4:130989463-130989464	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562537903	chr4:130989483-130989484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4864317	chr4:130989489-130989490	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548193853	chr4:130989502-130989503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560456190	chr4:130989503-130989504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549026603	chr4:130989541-130989542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527308235	chr4:130989543-130989544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553082840	chr4:130989548-130989549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130988200-130990200	Enhancers	Liver	Liver
2	chr4:130988800-130989600	Enhancers	Stomach Mucosa	stomach
3	chr4:130988800-130989800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:130988800-130989800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:130989000-130989400	Enhancers	Fetal Intestine Large	intestine
6	chr4:130989000-130989600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:130989000-130990000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:130989000-130990000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:130989000-130990000	Enhancers	Fetal Intestine Small	intestine
10	chr4:130989200-130989800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:130989400-130989800	Weak transcription	Fetal Intestine Large	intestine
12	chr4:130989600-130990000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:130989600-130995400	Weak transcription	Stomach Mucosa	stomach
14	chr4:130989800-130990000	Enhancers	Fetal Intestine Large	intestine
15	chr4:130990000-130992200	Weak transcription	Fetal Intestine Large	intestine
16	chr4:130990000-130993600	Weak transcription	Fetal Intestine Small	intestine
17	chr4:130990000-130995200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:130990000-130996800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:130990200-130993400	Weak transcription	Liver	Liver
20	chr4:130992200-130992400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:130992200-130995800	Enhancers	Fetal Intestine Large	intestine
22	chr4:130992800-130993200	Enhancers	Dnd41	blood
23	chr4:130992800-130996000	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:130993000-130993200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:130993400-130994600	Enhancers	Liver	Liver
26	chr4:130993600-130994000	Enhancers	Fetal Intestine Small	intestine
27	chr4:130993800-130995400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:130994000-130995200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:130994000-130995200	Weak transcription	Fetal Intestine Small	intestine
30	chr4:130994200-130994800	Enhancers	HepG2	liver
31	chr4:130994400-130994600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr4:130994400-130995400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:130994600-130995000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr4:130994600-130995600	Flanking Active TSS	Liver	Liver
35	chr4:130995000-130995200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr4:130995200-130995600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:130995200-130995600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:130995200-130995600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:130995200-130995600	Enhancers	Gastric	stomach
40	chr4:130995200-130995600	Enhancers	Pancreas	Pancrea
41	chr4:130995200-130996000	Enhancers	Fetal Intestine Small	intestine
42	chr4:130995200-130998000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:130995400-130995600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:130995400-130995600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:130995400-130996000	Enhancers	Stomach Mucosa	stomach
46	chr4:130995400-130999400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:130995600-130996200	Enhancers	Liver	Liver
48	chr4:130995600-130996600	Weak transcription	Gastric	stomach
49	chr4:130995600-131002200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:130995600-131005000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links