Variant report

Variant	nsv965147
Chromosome Location	chr3:21955249-21956054
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	chr3:21954020..21955585-chr3:21957563..21959846,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191560242	chr3:21955276-21955277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530698346	chr3:21955305-21955306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570486596	chr3:21955317-21955318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144220313	chr3:21955326-21955327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs259541	chr3:21955360-21955361	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148722074	chr3:21955374-21955375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs259540	chr3:21955384-21955385	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532982141	chr3:21955387-21955388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546291047	chr3:21955442-21955443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552843284	chr3:21955509-21955510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576074081	chr3:21955561-21955562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190354272	chr3:21955595-21955596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564889252	chr3:21955600-21955601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372685950	chr3:21955613-21955614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576866837	chr3:21955616-21955617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529403281	chr3:21955732-21955733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541749759	chr3:21955737-21955738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560082494	chr3:21955745-21955746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530268836	chr3:21955748-21955749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10510520	chr3:21955784-21955785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563657193	chr3:21955800-21955801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553631410	chr3:21955806-21955807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531056446	chr3:21955837-21955838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552355418	chr3:21955861-21955862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61418462	chr3:21955874-21955875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75556394	chr3:21955886-21955887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs779031	chr3:21955904-21955905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142300149	chr3:21955940-21955941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73129364	chr3:21955947-21955948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545732350	chr3:21955980-21955981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569507879	chr3:21956019-21956020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565630963	chr3:21956027-21956028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58278871	chr3:21956036-21956037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21953800-21955400	Enhancers	Colon Smooth Muscle	Colon
2	chr3:21953800-21956800	Enhancers	Fetal Lung	lung
3	chr3:21954000-21955400	Enhancers	NH-A	brain
4	chr3:21954000-21955600	Enhancers	Fetal Muscle Leg	muscle
5	chr3:21954000-21955600	Enhancers	NHLF	lung
6	chr3:21954000-21955800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:21954000-21956600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:21954000-21956600	Enhancers	NHDF-Ad	bronchial
9	chr3:21954200-21955600	Enhancers	Fetal Stomach	stomach
10	chr3:21954400-21960800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:21954600-21955800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:21954600-21956200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:21954600-21956400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:21954800-21957000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr3:21955400-21956400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:21955400-21960600	Weak transcription	NH-A	brain
17	chr3:21955600-21960600	Weak transcription	Fetal Stomach	stomach
18	chr3:21955600-21960800	Weak transcription	NHLF	lung
19	chr3:21955800-21961200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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