Variant report

Variant	nsv1028991
Chromosome Location	chr4:132468062-132547426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:
2	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:
3	chr10:15257912..15258445-chr4:132538874..132539729,2	MCF-7	breast:

Extended variants
information (count: 1701 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1701 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542448698	chr4:132468616-132468617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs554255692	chr4:132468631-132468632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559101018	chr4:132468696-132468697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs528243823	chr4:132468703-132468704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149883794	chr4:132468707-132468708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571413208	chr4:132468747-132468748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147569566	chr4:132468785-132468786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62318266	chr4:132468788-132468789	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567779175	chr4:132468839-132468840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs536720507	chr4:132468951-132468952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553473341	chr4:132468976-132468977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184867663	chr4:132469027-132469028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs567084548	chr4:132469050-132469051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs189753600	chr4:132469068-132469069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs350999	chr4:132469072-132469073	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191363156	chr4:132469110-132469111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs141944624	chr4:132469127-132469128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs556667658	chr4:132469128-132469129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183876398	chr4:132469138-132469139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs542336558	chr4:132469166-132469167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs558991799	chr4:132469184-132469185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs75350107	chr4:132469210-132469211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546988348	chr4:132469227-132469228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544760601	chr4:132469244-132469245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565232556	chr4:132469259-132469260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530708693	chr4:132469293-132469294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs145903345	chr4:132469295-132469296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs567570399	chr4:132469302-132469303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs530078870	chr4:132469316-132469317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138718820	chr4:132469328-132469329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148876861	chr4:132469331-132469332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143528169	chr4:132469436-132469437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs189333124	chr4:132469448-132469449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs377037521	chr4:132469482-132469483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529290705	chr4:132469552-132469553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs41467353	chr4:132469561-132469562	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34004732	chr4:132469569-132469570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs555217703	chr4:132469600-132469601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs572656737	chr4:132469656-132469657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535807385	chr4:132469673-132469674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs71593029	chr4:132469735-132469736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs71902928	chr4:132469736-132469737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs6534845	chr4:132469754-132469755	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs33951224	chr4:132469756-132469757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562003527	chr4:132469798-132469799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs530674527	chr4:132469903-132469904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181953962	chr4:132469934-132469935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544847476	chr4:132469990-132469991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564906407	chr4:132470013-132470014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112793981	chr4:132470056-132470057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132468600-132471000	ZNF genes & repeats	GM12878-XiMat	blood
2	chr4:132471000-132472400	Weak transcription	GM12878-XiMat	blood
3	chr4:132472400-132472800	Enhancers	GM12878-XiMat	blood
4	chr4:132484400-132487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:132485400-132486000	Active TSS	Fetal Heart	heart
6	chr4:132487000-132487800	Enhancers	HMEC	breast
7	chr4:132487000-132488000	Enhancers	NHEK	skin
8	chr4:132487200-132487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:132487400-132487800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:132487400-132488000	Enhancers	Pancreas	Pancrea
11	chr4:132487800-132491600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:132488000-132488400	Weak transcription	Pancreas	Pancrea
13	chr4:132488400-132488800	Enhancers	Pancreas	Pancrea
14	chr4:132504600-132506200	ZNF genes & repeats	Dnd41	blood
15	chr4:132505000-132505400	Enhancers	NHEK	skin
16	chr4:132505000-132505800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:132505000-132506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:132505000-132506200	Enhancers	HMEC	breast
19	chr4:132505200-132505800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:132505400-132505800	Enhancers	Esophagus	oesophagus
21	chr4:132505400-132505800	Flanking Active TSS	NHEK	skin
22	chr4:132505800-132506600	Enhancers	NHEK	skin
23	chr4:132505800-132508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:132506000-132506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:132506400-132506600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:132506600-132525800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:132524600-132526000	Enhancers	NHEK	skin
28	chr4:132524800-132526000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:132524800-132526200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:132525800-132526600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:132525800-132526800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:132526000-132531200	Weak transcription	NHEK	skin
33	chr4:132526000-132533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:132526200-132526600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:132526600-132526800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:132526800-132529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:132526800-132530800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:132529400-132529800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:132529800-132530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:132530200-132530600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:132530200-132532600	Enhancers	HMEC	breast
42	chr4:132530200-132532600	Enhancers	HUVEC	blood vessel
43	chr4:132530400-132532600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:132530600-132531600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:132530800-132532200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:132531200-132532600	Enhancers	NHEK	skin
47	chr4:132531600-132532200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr4:132531600-132532200	Enhancers	Hela-S3	cervix
49	chr4:132531600-132532400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:132531600-132532600	Enhancers	Muscle Satellite Cultured Cells	--

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