Variant report

Variant	nsv522577
Chromosome Location	chr3:21504737-21505480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13061028	chr3:21504737-21504738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536355096	chr3:21504742-21504743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200971094	chr3:21504765-21504766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555089051	chr3:21504778-21504779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73131561	chr3:21504794-21504795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73131564	chr3:21504891-21504892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556483687	chr3:21504961-21504962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578011846	chr3:21504995-21504996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545162152	chr3:21504999-21505000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146683411	chr3:21505049-21505050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115249851	chr3:21505069-21505070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542353975	chr3:21505105-21505106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9852842	chr3:21505141-21505142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531191870	chr3:21505145-21505146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185179693	chr3:21505146-21505147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571578915	chr3:21505157-21505158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532695602	chr3:21505231-21505232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547927267	chr3:21505240-21505241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566129424	chr3:21505274-21505275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536900923	chr3:21505290-21505291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17008871	chr3:21505299-21505300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570198959	chr3:21505301-21505302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537410772	chr3:21505317-21505318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58120499	chr3:21505322-21505323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577964638	chr3:21505336-21505337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539113564	chr3:21505386-21505387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35256846	chr3:21505387-21505388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538566749	chr3:21505398-21505399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554082225	chr3:21505413-21505414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567711671	chr3:21505441-21505442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572125757	chr3:21505453-21505454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs163469	chr3:21505480-21505481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21477000-21507200	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:21489200-21506600	Weak transcription	Fetal Stomach	stomach
3	chr3:21491800-21506800	Weak transcription	Aorta	Aorta
4	chr3:21504000-21519800	Weak transcription	NHDF-Ad	bronchial
5	chr3:21504400-21508200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:21504800-21505200	Enhancers	Ovary	ovary
7	chr3:21505200-21506200	Weak transcription	Ovary	ovary
8	chr3:21505400-21505600	Enhancers	Fetal Lung	lung
9	chr3:21505400-21506200	Enhancers	Colon Smooth Muscle	Colon

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