Variant report

Variant	nsv963302
Chromosome Location	chr3:21527070-21527982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528127978	chr3:21527072-21527073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546934909	chr3:21527111-21527112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568736822	chr3:21527127-21527128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189530152	chr3:21527162-21527163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550749101	chr3:21527163-21527164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78542726	chr3:21527166-21527167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539545208	chr3:21527189-21527190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545687349	chr3:21527199-21527200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553445246	chr3:21527234-21527235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557871992	chr3:21527278-21527279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2019705	chr3:21527328-21527329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573114731	chr3:21527338-21527339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35912305	chr3:21527368-21527369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372734992	chr3:21527376-21527377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181803248	chr3:21527377-21527378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116151991	chr3:21527383-21527384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376819668	chr3:21527421-21527422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368380501	chr3:21527449-21527450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572681963	chr3:21527517-21527518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574690693	chr3:21527532-21527533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542178937	chr3:21527553-21527554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557169449	chr3:21527607-21527608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575555064	chr3:21527668-21527669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188762205	chr3:21527704-21527705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564215421	chr3:21527784-21527785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528025438	chr3:21527786-21527787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540242234	chr3:21527800-21527801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1976417	chr3:21527819-21527820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529935970	chr3:21527840-21527841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150784807	chr3:21527845-21527846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569100363	chr3:21527903-21527904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533359339	chr3:21527920-21527921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551415918	chr3:21527965-21527966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186424863	chr3:21527978-21527979	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21515800-21563000	Weak transcription	Fetal Stomach	stomach
2	chr3:21519800-21549000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:21524000-21537000	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:21526200-21559000	Weak transcription	Aorta	Aorta
5	chr3:21526400-21527800	Weak transcription	NH-A	brain
6	chr3:21527800-21528200	Enhancers	NH-A	brain
7	chr3:21527800-21528600	Enhancers	NHDF-Ad	bronchial
8	chr3:21527800-21529400	Enhancers	Pancreatic Islets	Pancreatic Islet

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