Variant report

Variant	nsv589896
Chromosome Location	chr3:21692393-21712269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21693828..21695393-chr3:21699216..21701060,2	K562	blood:
2	chr3:21705697..21707746-chr3:21710936..21713423,2	MCF-7	breast:
3	chr3:21705075..21707006-chr3:21711502..21714008,3	K562	blood:
4	chr3:21709988..21712111-chr3:21717387..21720312,2	K562	blood:
5	chr3:21700043..21701909-chr3:21703783..21705920,2	K562	blood:
6	chr3:21693828..21695393-chr3:21699216..21701060,2	K562	blood:
7	chr3:21696094..21698231-chr3:21699619..21701912,2	K562	blood:
8	chr3:21705075..21707006-chr3:21711502..21714008,3	K562	blood:
9	chr3:21705697..21707746-chr3:21710936..21713423,2	MCF-7	breast:
10	chr3:21700043..21701909-chr3:21703783..21705920,2	K562	blood:
11	chr3:21699534..21701543-chr3:21703590..21705283,2	K562	blood:
12	chr3:21699534..21701543-chr3:21703590..21705283,2	K562	blood:
13	chr3:21696094..21698231-chr3:21699619..21701912,2	K562	blood:

No data

Extended variants
information (count: 876 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:876 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17009199	chr3:21692393-21692394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568661853	chr3:21692437-21692438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145999711	chr3:21692497-21692498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547744845	chr3:21692500-21692501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565946175	chr3:21692509-21692510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527538012	chr3:21692536-21692537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568859997	chr3:21692542-21692543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549336070	chr3:21692543-21692544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567463503	chr3:21692549-21692550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537709201	chr3:21692568-21692569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34764620	chr3:21692616-21692617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397988909	chr3:21692629-21692630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551308255	chr3:21692644-21692645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572480192	chr3:21692653-21692654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556277522	chr3:21692673-21692674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11717240	chr3:21692696-21692697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538376398	chr3:21692742-21692743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149734834	chr3:21692766-21692767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571987404	chr3:21692767-21692768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188415681	chr3:21692773-21692774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13317269	chr3:21692775-21692776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71044931	chr3:21692780-21692781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397877447	chr3:21692805-21692806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13079271	chr3:21692806-21692807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145642090	chr3:21692822-21692823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553425149	chr3:21692863-21692864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573292403	chr3:21692874-21692875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367968147	chr3:21692892-21692893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576215692	chr3:21692908-21692909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114559373	chr3:21692925-21692926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565361685	chr3:21692936-21692937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191287080	chr3:21692945-21692946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541179004	chr3:21692992-21692993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62237409	chr3:21693003-21693004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77749833	chr3:21693005-21693006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77925853	chr3:21693022-21693023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530083734	chr3:21693038-21693039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12495600	chr3:21693057-21693058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554440917	chr3:21693142-21693143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541477303	chr3:21693230-21693231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549275055	chr3:21693346-21693347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574591226	chr3:21693398-21693399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561199562	chr3:21693405-21693406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184852788	chr3:21693438-21693439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549972093	chr3:21693463-21693464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571356168	chr3:21693470-21693471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540385707	chr3:21693479-21693480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57797125	chr3:21693523-21693524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148501433	chr3:21693603-21693604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117467846	chr3:21693608-21693609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21683800-21706600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:21685600-21707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:21687200-21696400	Weak transcription	Aorta	Aorta
4	chr3:21687200-21701800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:21687200-21706200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:21687200-21709600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:21687400-21706800	Weak transcription	Fetal Lung	lung
8	chr3:21687800-21696000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:21688000-21699000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:21688000-21707000	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:21688200-21695800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:21695000-21703600	Weak transcription	K562	blood
13	chr3:21695800-21696000	Enhancers	HSMMtube	muscle
14	chr3:21695800-21696000	Enhancers	NH-A	brain
15	chr3:21695800-21696200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:21695800-21696400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:21695800-21696800	Enhancers	NHDF-Ad	bronchial
18	chr3:21695800-21696800	Enhancers	NHLF	lung
19	chr3:21695800-21697000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:21695800-21697000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:21696000-21696200	Flanking Active TSS	NH-A	brain
22	chr3:21696000-21696600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:21696000-21696600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr3:21696000-21696800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:21696000-21696800	Enhancers	HSMM	muscle
26	chr3:21696200-21696400	Enhancers	NH-A	brain
27	chr3:21696200-21696600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:21696200-21696800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:21696200-21696800	Enhancers	HMEC	breast
30	chr3:21696200-21696800	Enhancers	NHEK	skin
31	chr3:21696400-21696600	Enhancers	Fetal Heart	heart
32	chr3:21696400-21696600	Flanking Active TSS	NH-A	brain
33	chr3:21696400-21696800	Enhancers	Osteobl	bone
34	chr3:21696400-21697000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:21696400-21697200	Enhancers	Aorta	Aorta
36	chr3:21696600-21696800	Enhancers	HSMMtube	muscle
37	chr3:21696600-21696800	Enhancers	NH-A	brain
38	chr3:21696600-21697400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:21696600-21698800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:21696600-21713400	Weak transcription	Fetal Heart	heart
41	chr3:21696800-21713200	Weak transcription	NHDF-Ad	bronchial
42	chr3:21697000-21697200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:21697000-21704400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:21697200-21706200	Weak transcription	Aorta	Aorta
45	chr3:21698800-21699000	Enhancers	Fetal Stomach	stomach
46	chr3:21698800-21699200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:21699000-21699800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr3:21699000-21707000	Weak transcription	Fetal Stomach	stomach
49	chr3:21699800-21705200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:21701800-21702400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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