Variant report

Variant	nsv525865
Chromosome Location	chr4:81864371-81894986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMP3-2	chr4:81884671-81884851	NONHSAT097143

Extended variants
information (count: 438 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6830629	chr4:81864371-81864372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550254109	chr4:81864398-81864399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566972343	chr4:81864423-81864424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34563149	chr4:81864430-81864431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535825305	chr4:81864501-81864502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552882019	chr4:81864558-81864559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566723340	chr4:81864580-81864581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557690851	chr4:81864589-81864590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148686297	chr4:81864598-81864599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187049309	chr4:81864626-81864627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191122409	chr4:81864635-81864636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577870280	chr4:81864667-81864668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557485833	chr4:81864671-81864672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112275993	chr4:81864680-81864681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182365142	chr4:81864712-81864713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543010790	chr4:81864757-81864758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187053217	chr4:81864765-81864766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191648835	chr4:81864779-81864780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183062360	chr4:81864818-81864819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371788109	chr4:81864819-81864820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35642310	chr4:81864900-81864901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111750628	chr4:81864917-81864918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113309012	chr4:81865004-81865005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142180905	chr4:81865019-81865020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199561559	chr4:81865047-81865048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373801427	chr4:81865060-81865061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187302226	chr4:81865069-81865070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193132085	chr4:81865080-81865081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185737959	chr4:81865088-81865089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112100216	chr4:81865089-81865090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533469256	chr4:81865147-81865148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190267406	chr4:81865151-81865152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558562521	chr4:81865152-81865153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569078849	chr4:81865164-81865165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192715679	chr4:81865177-81865178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571872514	chr4:81865218-81865219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564743898	chr4:81865219-81865220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557508023	chr4:81865259-81865260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556184285	chr4:81865260-81865261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141268954	chr4:81865295-81865296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543047750	chr4:81865327-81865328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183631825	chr4:81865328-81865329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573149254	chr4:81865329-81865330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545732846	chr4:81865352-81865353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570230599	chr4:81865364-81865365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145138184	chr4:81865369-81865370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575831087	chr4:81865385-81865386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544364516	chr4:81865390-81865391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560669251	chr4:81865396-81865397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529691830	chr4:81865452-81865453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81864000-81864400	Enhancers	NHDF-Ad	bronchial
2	chr4:81864400-81867600	Weak transcription	NHDF-Ad	bronchial
3	chr4:81866200-81866400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:81866200-81866400	Enhancers	Ovary	ovary
5	chr4:81866400-81870800	Weak transcription	Ovary	ovary
6	chr4:81867000-81867200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:81867400-81871200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:81867600-81871800	Enhancers	NHDF-Ad	bronchial
9	chr4:81869200-81870600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:81870800-81871200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:81870800-81871200	Enhancers	Ovary	ovary
12	chr4:81871200-81872000	Enhancers	Fetal Kidney	kidney
13	chr4:81882800-81883200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:81884000-81884800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:81884000-81884800	Enhancers	NHEK	skin
16	chr4:81884200-81884600	Enhancers	NHDF-Ad	bronchial
17	chr4:81887000-81887600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:81887600-81888400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:81888400-81889000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:81888600-81889200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:81888800-81889000	Bivalent Enhancer	NHDF-Ad	bronchial
22	chr4:81894800-81895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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