Variant report

Variant	nsv10513
Chromosome Location	chr4:68758071-68774546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 642 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73823256	chr4:68758098-68758099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13124211	chr4:68758134-68758135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13147424	chr4:68758135-68758136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557241761	chr4:68758208-68758209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190561095	chr4:68758212-68758213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546016169	chr4:68758251-68758252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565371379	chr4:68758256-68758257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574309471	chr4:68758259-68758260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572621334	chr4:68758260-68758261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114825813	chr4:68758273-68758274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561226400	chr4:68758274-68758275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36058873	chr4:68758308-68758309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565649709	chr4:68758334-68758335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550179777	chr4:68758341-68758342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564044630	chr4:68758520-68758521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148830109	chr4:68758615-68758616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115484728	chr4:68758617-68758618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527406419	chr4:68758632-68758633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547033296	chr4:68758656-68758657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78993176	chr4:68758660-68758661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534372839	chr4:68758675-68758676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564492000	chr4:68758702-68758703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143585742	chr4:68758745-68758746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370681998	chr4:68758748-68758749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567933063	chr4:68758781-68758782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537076049	chr4:68758784-68758785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62301340	chr4:68758818-68758819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577111063	chr4:68758843-68758844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148069610	chr4:68758848-68758849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2196967	chr4:68758873-68758874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553158997	chr4:68758895-68758896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72849569	chr4:68758922-68758923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541504167	chr4:68758935-68758936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182198513	chr4:68758937-68758938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574720142	chr4:68758954-68758955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543839024	chr4:68758967-68758968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184298157	chr4:68758987-68758988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138998742	chr4:68758993-68758994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532792929	chr4:68759001-68759002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116524897	chr4:68759037-68759038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75716615	chr4:68759043-68759044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528680457	chr4:68759045-68759046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189201516	chr4:68759069-68759070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547983249	chr4:68759073-68759074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143605962	chr4:68759077-68759078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372845924	chr4:68759143-68759144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78171907	chr4:68759167-68759168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377595879	chr4:68759170-68759171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35652960	chr4:68759189-68759190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62301341	chr4:68759263-68759264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Depressive disorder	21152026	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68752400-68761600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr4:68757200-68758400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:68757400-68758200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:68757400-68758400	Enhancers	HMEC	breast
5	chr4:68757600-68758200	Enhancers	NHEK	skin
6	chr4:68758000-68758200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:68758000-68759200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:68758200-68758600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:68758600-68759200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:68758600-68759600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:68759400-68759600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:68760200-68761200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:68760200-68762400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:68761600-68762400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:68761600-68762800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr4:68762000-68762800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:68762200-68762400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:68762200-68762600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:68762800-68765000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:68764800-68765800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr4:68765000-68766000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr4:68766000-68767000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr4:68767000-68767600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:68768400-68772800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:68772800-68773800	Enhancers	Esophagus	oesophagus
26	chr4:68773800-68779000	Weak transcription	Esophagus	oesophagus

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