Variant report

Variant	nsv524353
Chromosome Location	chr3:98436188-98439637
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	chr3:98438833..98441641-chr3:98449159..98451733,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCBLD2-1	chr3:98437263-98437365	ENSG00000239445.1
2	lnc-DCBLD2-1	chr3:98437263-98437365	NR_046683
3	lnc-DCBLD2-1	chr3:98437268-98437365	ENSG00000239445.1

Variant related genes	Relation type
ENSG00000239445	chromatin interactions
ENSG00000064225	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12635955	chr3:98436188-98436189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541825306	chr3:98436211-98436212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546303694	chr3:98436273-98436274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562694824	chr3:98436280-98436281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35062769	chr3:98436354-98436355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531741652	chr3:98436432-98436433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182461125	chr3:98436451-98436452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186984617	chr3:98436454-98436455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527606764	chr3:98436474-98436475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189760663	chr3:98436511-98436512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563451050	chr3:98436558-98436559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371043898	chr3:98436562-98436563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114859181	chr3:98436563-98436564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182183492	chr3:98436565-98436566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543626041	chr3:98436621-98436622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116823988	chr3:98436645-98436646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9858592	chr3:98436753-98436754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs11716001	chr3:98436756-98436757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555430855	chr3:98436840-98436841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575170401	chr3:98436843-98436844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539656158	chr3:98436844-98436845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199994560	chr3:98436846-98436847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs278368	chr3:98436847-98436848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142877358	chr3:98436866-98436867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75245437	chr3:98436867-98436868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12496694	chr3:98436880-98436881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs372526296	chr3:98436953-98436954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111884611	chr3:98436960-98436961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577374566	chr3:98437032-98437033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545939332	chr3:98437041-98437042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371352422	chr3:98437056-98437057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531755921	chr3:98437070-98437071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541797766	chr3:98437098-98437099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146296964	chr3:98437102-98437103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9858954	chr3:98437140-98437141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs547310561	chr3:98437233-98437234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548268310	chr3:98437241-98437242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570506232	chr3:98437244-98437245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139426511	chr3:98437247-98437248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187189959	chr3:98437258-98437259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569712313	chr3:98437296-98437297	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs535232512	chr3:98437322-98437323	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs548966016	chr3:98437336-98437337	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs564213331	chr3:98437492-98437493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142635747	chr3:98437494-98437495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534449877	chr3:98437502-98437503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190026093	chr3:98437503-98437504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550858330	chr3:98437511-98437512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540019483	chr3:98437549-98437550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72930960	chr3:98437559-98437560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98425600-98438600	Weak transcription	Aorta	Aorta
2	chr3:98431000-98449200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:98432800-98437400	Weak transcription	Placenta	Placenta
4	chr3:98433400-98446000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:98436200-98436400	Enhancers	Stomach Mucosa	stomach
6	chr3:98437200-98438000	Enhancers	GM12878-XiMat	blood
7	chr3:98437400-98437800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr3:98437400-98438400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:98437400-98438400	Enhancers	Placenta	Placenta
10	chr3:98438200-98438600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:98438400-98438600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:98438400-98441800	Weak transcription	Placenta	Placenta
13	chr3:98438600-98441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:98438800-98441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:98439400-98439600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:98439600-98440800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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