Variant report

Variant	nsv523197
Chromosome Location	chr3:98971681-98972926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1851065	chr3:98971681-98971682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537869471	chr3:98971682-98971683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183662307	chr3:98971691-98971692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568019590	chr3:98971700-98971701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34016574	chr3:98971711-98971712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71625515	chr3:98971731-98971732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57646799	chr3:98971751-98971752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571405911	chr3:98971754-98971755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77401549	chr3:98971779-98971780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116530942	chr3:98971822-98971823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368423401	chr3:98971823-98971824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187916946	chr3:98971825-98971826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192210302	chr3:98971839-98971840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556008699	chr3:98971845-98971846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576052027	chr3:98971852-98971853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541468814	chr3:98971861-98971862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371099584	chr3:98971875-98971876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185075276	chr3:98971891-98971892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148013018	chr3:98971903-98971904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114174270	chr3:98971912-98971913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372847485	chr3:98971921-98971922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143484754	chr3:98971929-98971930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554263016	chr3:98971949-98971950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113289597	chr3:98971950-98971951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1973742	chr3:98971955-98971956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2880153	chr3:98971972-98971973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1973743	chr3:98971973-98971974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2341807	chr3:98971981-98971982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2341808	chr3:98971986-98971987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569263193	chr3:98971999-98972000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3964242	chr3:98972005-98972006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574446987	chr3:98972006-98972007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3964243	chr3:98972009-98972010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4039380	chr3:98972011-98972012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3964244	chr3:98972020-98972021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4039381	chr3:98972029-98972030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568105998	chr3:98972045-98972046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533869353	chr3:98972074-98972075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553630451	chr3:98972075-98972076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570698221	chr3:98972076-98972077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539271855	chr3:98972081-98972082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543560515	chr3:98972088-98972089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80183938	chr3:98972102-98972103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1973744	chr3:98972110-98972111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1973745	chr3:98972118-98972119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563345833	chr3:98972127-98972128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555440963	chr3:98972162-98972163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184276172	chr3:98972186-98972187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540953484	chr3:98972194-98972195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559215134	chr3:98972195-98972196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98969400-98977200	Weak transcription	HSMMtube	muscle
2	chr3:98970200-98972200	Weak transcription	NHDF-Ad	bronchial
3	chr3:98970200-98972400	Weak transcription	Fetal Lung	lung
4	chr3:98970200-98975000	Weak transcription	HMEC	breast
5	chr3:98970200-98988400	Weak transcription	Aorta	Aorta
6	chr3:98970200-98988800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:98970600-98972400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:98970600-98975600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:98971400-98972400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:98971600-98971800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:98972400-98972600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:98972400-98972600	Enhancers	NHDF-Ad	bronchial
13	chr3:98972400-98972800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:98972400-98973200	Enhancers	Fetal Lung	lung

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