Variant report

Variant	nsv964275
Chromosome Location	chr4:69654105-69665543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185428795	chr4:69658044-69658045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557972163	chr4:69658075-69658076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149053379	chr4:69658078-69658079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374411577	chr4:69658082-69658083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112320890	chr4:69658110-69658111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529038351	chr4:69658122-69658123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373332599	chr4:69658123-69658124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10010915	chr4:69658127-69658128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138649418	chr4:69658134-69658135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6854648	chr4:69658159-69658160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551317389	chr4:69658175-69658176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564720307	chr4:69658178-69658179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190296281	chr4:69658184-69658185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550462479	chr4:69662219-69662220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566163604	chr4:69662294-69662295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10006957	chr4:69662297-69662298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187552162	chr4:69662301-69662302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536076923	chr4:69662338-69662339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1818490	chr4:69662363-69662364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537534860	chr4:69662404-69662405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138223418	chr4:69662407-69662408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568190140	chr4:69662417-69662418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71598085	chr4:69662422-69662423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2942856	chr4:69662451-69662452	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540172334	chr4:69662477-69662478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553670606	chr4:69662491-69662492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192538529	chr4:69662525-69662526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535804916	chr4:69662553-69662554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555586629	chr4:69662556-69662557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575731766	chr4:69662612-69662613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75648705	chr4:69662637-69662638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553354029	chr4:69662655-69662656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564336420	chr4:69662681-69662682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577400939	chr4:69662703-69662704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368006600	chr4:69662704-69662705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149536458	chr4:69662715-69662716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570083760	chr4:69662718-69662719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144083238	chr4:69662789-69662790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148236470	chr4:69662829-69662830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2926038	chr4:69662832-69662833	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562340685	chr4:69662918-69662919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531463212	chr4:69662935-69662936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375622064	chr4:69662945-69662946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58813047	chr4:69662983-69662984	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2926037	chr4:69663003-69663004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs540008049	chr4:69663048-69663049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375656555	chr4:69663098-69663099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567125822	chr4:69663121-69663122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535767888	chr4:69663130-69663131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80138869	chr4:69663165-69663166	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	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
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69658000-69658200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69662200-69662400	Enhancers	Rectal Smooth Muscle	rectum
3	chr4:69662400-69663000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:69662400-69663800	Enhancers	Liver	Liver
5	chr4:69662800-69664000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:69663000-69663800	Enhancers	Rectal Smooth Muscle	rectum
7	chr4:69663000-69664000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:69663000-69664000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:69663000-69664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:69663200-69663400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:69663200-69663800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:69663200-69664000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:69663400-69663800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:69663600-69664000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:69663800-69664400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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