Variant report

Variant	nsv964339
Chromosome Location	chr4:70020642-70039464
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	chr4:70024955..70027798-chr4:70029828..70032326,2	K562	blood:
2	chr4:70024955..70027798-chr4:70029828..70032326,2	K562	blood:

Extended variants
information (count: 937 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:937 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77058431	chr4:70020696-70020697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537997713	chr4:70020701-70020702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546553398	chr4:70020759-70020760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs33969244	chr4:70020760-70020761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182034531	chr4:70020763-70020764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74286020	chr4:70020779-70020780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75802976	chr4:70020804-70020805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560035965	chr4:70020827-70020828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185434109	chr4:70020847-70020848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78089972	chr4:70020866-70020867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553464174	chr4:70020873-70020874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77925346	chr4:70020895-70020896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76955606	chr4:70020913-70020914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551216471	chr4:70020937-70020938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190638745	chr4:70020972-70020973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564955499	chr4:70021002-70021003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527299776	chr4:70021022-70021023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547287527	chr4:70021067-70021068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567175745	chr4:70021088-70021089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78951408	chr4:70021121-70021122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398063655	chr4:70021125-70021126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146811760	chr4:70021126-70021127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200727641	chr4:70021129-70021130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377208784	chr4:70021136-70021137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115960006	chr4:70021161-70021162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542394042	chr4:70021203-70021204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138927787	chr4:70021223-70021224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200312717	chr4:70021271-70021272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201784943	chr4:70021272-70021273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369147976	chr4:70021273-70021274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57252550	chr4:70021274-70021275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10545630	chr4:70021275-70021276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79119333	chr4:70021276-70021277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377478566	chr4:70021285-70021286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72314280	chr4:70021286-70021287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10593962	chr4:70021287-70021288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs66536046	chr4:70021296-70021297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377489652	chr4:70021302-70021303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370657986	chr4:70021303-70021304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72318695	chr4:70021304-70021305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59503344	chr4:70021313-70021314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373614354	chr4:70021314-70021315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201723046	chr4:70021320-70021321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141583365	chr4:70021335-70021336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373549675	chr4:70021336-70021337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369607515	chr4:70021337-70021338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201738817	chr4:70021340-70021341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5002700	chr4:70021355-70021356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs5002701	chr4:70021360-70021361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557984121	chr4:70021397-70021398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70019400-70031200	Weak transcription	HepG2	liver
2	chr4:70025800-70026200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:70030600-70031400	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:70031200-70031400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr4:70031200-70032600	Enhancers	HepG2	liver
6	chr4:70031400-70032600	Enhancers	Fetal Intestine Large	intestine
7	chr4:70031600-70031800	Enhancers	Liver	Liver
8	chr4:70031800-70035400	Active TSS	Liver	Liver
9	chr4:70032200-70032600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:70032600-70035400	Weak transcription	HepG2	liver
11	chr4:70035000-70035200	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr4:70035200-70043600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:70035400-70035800	Flanking Active TSS	Liver	Liver
14	chr4:70035400-70036400	Enhancers	HepG2	liver
15	chr4:70035800-70038200	Enhancers	Liver	Liver
16	chr4:70038200-70038600	Weak transcription	Liver	Liver
17	chr4:70038600-70038800	Enhancers	Liver	Liver
18	chr4:70038800-70041000	Weak transcription	Liver	Liver

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