Variant report

Variant	nsv822029
Chromosome Location	chr3:21490121-21490623
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	rs183078626	chr3:21490134-21490135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs424695	chr3:21490145-21490146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116177752	chr3:21490154-21490155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577032946	chr3:21490155-21490156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115134405	chr3:21490197-21490198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7647569	chr3:21490234-21490235	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs390039	chr3:21490246-21490247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111431934	chr3:21490247-21490248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs446720	chr3:21490248-21490249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563022993	chr3:21490251-21490252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530555298	chr3:21490287-21490288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139183397	chr3:21490296-21490297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533789681	chr3:21490311-21490312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201169245	chr3:21490355-21490356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs63456861	chr3:21490356-21490357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189043723	chr3:21490407-21490408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs453990	chr3:21490422-21490423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs447169	chr3:21490448-21490449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547329351	chr3:21490457-21490458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568813328	chr3:21490466-21490467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4597731	chr3:21490473-21490474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529505685	chr3:21490521-21490522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551222236	chr3:21490525-21490526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201030224	chr3:21490563-21490564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201225051	chr3:21490564-21490565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201448277	chr3:21490567-21490568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199785357	chr3:21490568-21490569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34551871	chr3:21490585-21490586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576047432	chr3:21490596-21490597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10490884	chr3:21490606-21490607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200277552	chr3:21490613-21490614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539562780	chr3:21490619-21490620	Weak transcription	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21463000-21491400	Weak transcription	Aorta	Aorta
2	chr3:21477000-21491200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:21477000-21507200	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:21483600-21491200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:21488400-21490200	Enhancers	HSMM	muscle
6	chr3:21488400-21491200	Weak transcription	Left Ventricle	heart
7	chr3:21489200-21491200	Weak transcription	Ovary	ovary
8	chr3:21489200-21506600	Weak transcription	Fetal Stomach	stomach
9	chr3:21489400-21490400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:21489400-21490400	Enhancers	NHDF-Ad	bronchial
11	chr3:21489400-21490600	Enhancers	Fetal Lung	lung
12	chr3:21489400-21491400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:21490400-21491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:21490600-21491000	Weak transcription	Fetal Lung	lung

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