Variant report

Variant	nsv10523
Chromosome Location	chr4:69933492-69935030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373789280	chr4:69933505-69933506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187767711	chr4:69933506-69933507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551435746	chr4:69933514-69933515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571275705	chr4:69933516-69933517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141590136	chr4:69933537-69933538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114821124	chr4:69933541-69933542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567121708	chr4:69933561-69933562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536151787	chr4:69933570-69933571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150903571	chr4:69933583-69933584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7441402	chr4:69933630-69933631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575775563	chr4:69933689-69933690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544504700	chr4:69933692-69933693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567152791	chr4:69933703-69933704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58077880	chr4:69933717-69933718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540190035	chr4:69933735-69933736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578235288	chr4:69933805-69933806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560113264	chr4:69933833-69933834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139379313	chr4:69933837-69933838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542499844	chr4:69933841-69933842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562668881	chr4:69933848-69933849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150025114	chr4:69933879-69933880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551302614	chr4:69933926-69933927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146696123	chr4:69933929-69933930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77902165	chr4:69933968-69933969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111741646	chr4:69933979-69933980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7439098	chr4:69933992-69933993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554597889	chr4:69934065-69934066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574711125	chr4:69934126-69934127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567259690	chr4:69934152-69934153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4694159	chr4:69934178-69934179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs556001380	chr4:69934189-69934190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569470458	chr4:69934192-69934193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192894029	chr4:69934249-69934250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4694596	chr4:69934355-69934356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139170425	chr4:69934356-69934357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4694597	chr4:69934361-69934362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs143997783	chr4:69934370-69934371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115941164	chr4:69934374-69934375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562643787	chr4:69934424-69934425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376642873	chr4:69934455-69934456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542635213	chr4:69934461-69934462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4694160	chr4:69934473-69934474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs531516226	chr4:69934474-69934475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184913561	chr4:69934543-69934544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188574224	chr4:69934580-69934581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76671179	chr4:69934591-69934592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192849168	chr4:69934604-69934605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184394821	chr4:69934646-69934647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189174000	chr4:69934688-69934689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547413240	chr4:69934786-69934787	Weak transcription Enhancers	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69927400-69934400	Weak transcription	Liver	Liver
2	chr4:69930400-69936600	Weak transcription	HepG2	liver
3	chr4:69930600-69944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:69932600-69933600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:69933600-69936400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:69934400-69939200	Enhancers	Liver	Liver
7	chr4:69934800-69935000	Enhancers	HMEC	breast
8	chr4:69934800-69935000	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links