Variant report

Variant	nsv965118
Chromosome Location	chr3:143951162-143952502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58095965	chr3:143951248-143951249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71307963	chr3:143951252-143951253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201503352	chr3:143951253-143951254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57118855	chr3:143951256-143951257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56714535	chr3:143951258-143951259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557406704	chr3:143951295-143951296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189147785	chr3:143951335-143951336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561450653	chr3:143951348-143951349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181906237	chr3:143951356-143951357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560595605	chr3:143951388-143951389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554672255	chr3:143951474-143951475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528053942	chr3:143951487-143951488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73871160	chr3:143951495-143951496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558276333	chr3:143951517-143951518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142619605	chr3:143951579-143951580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540190604	chr3:143951589-143951590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78218756	chr3:143951602-143951603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73871161	chr3:143951615-143951616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184850755	chr3:143951634-143951635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373022427	chr3:143951635-143951636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150973719	chr3:143951642-143951643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1503334	chr3:143951707-143951708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550459206	chr3:143951709-143951710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547997224	chr3:143951736-143951737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142163743	chr3:143951745-143951746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189982917	chr3:143951764-143951765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182105062	chr3:143951769-143951770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571603656	chr3:143951780-143951781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569186698	chr3:143951826-143951827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561967568	chr3:143951928-143951929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573861297	chr3:143951933-143951934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551231366	chr3:143951937-143951938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569589490	chr3:143951945-143951946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536804792	chr3:143952025-143952026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118035790	chr3:143952045-143952046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554843720	chr3:143952058-143952059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146268254	chr3:143952162-143952163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1503335	chr3:143952189-143952190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs576750414	chr3:143952218-143952219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574768153	chr3:143952254-143952255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559776109	chr3:143952277-143952278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114159640	chr3:143952283-143952284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138910651	chr3:143952348-143952349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373173466	chr3:143952387-143952388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186306185	chr3:143952396-143952397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143949200-143952600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:143949200-143954200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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