Variant report

Variant	nsv980520
Chromosome Location	chr4:166454479-166464670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166459248..166460151-chr4:167012754..167013285,2	K562	blood:
2	chr4:166457407..166458582-chr4:167012763..167013739,5	MCF-7	breast:
3	chr4:166463048..166465958-chr4:166466344..166468402,2	K562	blood:
4	chr4:166458088..166458621-chr4:166702621..166703139,2	MCF-7	breast:
5	chr4:166458106..166458875-chr4:166702316..166703340,5	MCF-7	breast:
6	chr4:166457869..166458829-chr4:166621749..166622649,2	MCF-7	breast:

Extended variants
information (count: 488 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565371610	chr4:166454590-166454591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532582333	chr4:166454630-166454631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10004769	chr4:166454638-166454639	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566379798	chr4:166454648-166454649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185382083	chr4:166454649-166454650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59427259	chr4:166454674-166454675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189204622	chr4:166454716-166454717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537238717	chr4:166454732-166454733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17046656	chr4:166454733-166454734	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148143287	chr4:166454782-166454783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538643413	chr4:166454789-166454790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374297318	chr4:166454798-166454799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553459611	chr4:166454806-166454807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7664515	chr4:166454808-166454809	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7689185	chr4:166454826-166454827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181897065	chr4:166454875-166454876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576348746	chr4:166454885-166454886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141941871	chr4:166454887-166454888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565414508	chr4:166454909-166454910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75789332	chr4:166454927-166454928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7664890	chr4:166454935-166454936	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559441982	chr4:166454964-166454965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530432466	chr4:166455032-166455033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386681683	chr4:166455037-166455038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7665408	chr4:166455038-166455039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531043617	chr4:166455040-166455041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147339289	chr4:166455084-166455085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184882358	chr4:166455085-166455086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538306997	chr4:166455117-166455118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7664983	chr4:166455125-166455126	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141000794	chr4:166455167-166455168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536238800	chr4:166455180-166455181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554928520	chr4:166455230-166455231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80150178	chr4:166455246-166455247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189693501	chr4:166455254-166455255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558758985	chr4:166455256-166455257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144654316	chr4:166455273-166455274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17046676	chr4:166455306-166455307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559789143	chr4:166455325-166455326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111711417	chr4:166455371-166455372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542190893	chr4:166455372-166455373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57104235	chr4:166455380-166455381	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531080390	chr4:166455382-166455383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552355495	chr4:166455412-166455413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368004023	chr4:166455428-166455429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577907462	chr4:166455429-166455430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139239528	chr4:166455499-166455500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534061420	chr4:166455532-166455533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181043735	chr4:166455567-166455568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565743759	chr4:166455653-166455654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166438800-166462000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:166454600-166455400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:166457400-166457600	Enhancers	Colon Smooth Muscle	Colon
4	chr4:166458200-166458400	Enhancers	Colon Smooth Muscle	Colon
5	chr4:166461400-166461800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:166461400-166462000	Enhancers	Fetal Intestine Large	intestine
7	chr4:166461400-166462200	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:166461400-166462200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr4:166461400-166462200	Enhancers	Osteobl	bone
10	chr4:166461400-166462400	Enhancers	Fetal Intestine Small	intestine
11	chr4:166461600-166461800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr4:166461800-166462200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:166462000-166462200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:166462000-166462200	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr4:166462000-166464200	Weak transcription	Fetal Brain Male	brain
16	chr4:166463000-166463400	Enhancers	Fetal Brain Female	brain
17	chr4:166464200-166464800	Enhancers	Fetal Brain Male	brain

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