Variant report

Variant	nsv980098
Chromosome Location	chr3:81680464-81687304
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	chr3:81538877..81541023-chr3:81682087..81685020,2	MCF-7	breast:

Extended variants
information (count: 226 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9848621	chr3:81680488-81680489	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs576633084	chr3:81680499-81680500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs545631929	chr3:81680518-81680519	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs565437105	chr3:81680526-81680527	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143862916	chr3:81680529-81680530	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547559470	chr3:81680558-81680559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560807800	chr3:81680559-81680560	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs374791076	chr3:81680614-81680615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529731455	chr3:81680676-81680677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370781657	chr3:81680680-81680681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540909758	chr3:81680684-81680685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532241279	chr3:81680696-81680697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551963810	chr3:81680698-81680699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565491992	chr3:81680714-81680715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562649713	chr3:81680730-81680731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376340005	chr3:81680740-81680741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113453195	chr3:81680741-81680742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567632147	chr3:81680748-81680749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192094932	chr3:81680807-81680808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537059909	chr3:81680818-81680819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115773927	chr3:81680840-81680841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576682759	chr3:81680847-81680848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553880949	chr3:81680851-81680852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576948428	chr3:81680862-81680863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560886495	chr3:81680893-81680894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541957566	chr3:81680897-81680898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58203560	chr3:81680910-81680911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572715929	chr3:81680925-81680926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146667117	chr3:81680974-81680975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11127737	chr3:81681035-81681036	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529729010	chr3:81681099-81681100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543423086	chr3:81681122-81681123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563098676	chr3:81681125-81681126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532278151	chr3:81681137-81681138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183469844	chr3:81681159-81681160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112760206	chr3:81681162-81681163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140093692	chr3:81681193-81681194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371585570	chr3:81681210-81681211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528305766	chr3:81681249-81681250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150335072	chr3:81681263-81681264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192743381	chr3:81681266-81681267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536306824	chr3:81681269-81681270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556523187	chr3:81681365-81681366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570110208	chr3:81681469-81681470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539023141	chr3:81681501-81681502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559324524	chr3:81681505-81681506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182584581	chr3:81681509-81681510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367656328	chr3:81681567-81681568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554832870	chr3:81681568-81681569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574485781	chr3:81681598-81681599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81603600-81726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:81613600-81699200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:81614000-81693600	Weak transcription	Aorta	Aorta
4	chr3:81614400-81688800	Weak transcription	Right Ventricle	heart
5	chr3:81627400-81755000	Weak transcription	Primary B cells from cord blood	blood
6	chr3:81635000-81700800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:81642000-81753000	Weak transcription	HUVEC	blood vessel
8	chr3:81642200-81712200	Weak transcription	Ovary	ovary
9	chr3:81661800-81690600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:81662000-81688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:81662200-81688800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:81662200-81691200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:81662200-81699800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:81662200-81703000	Weak transcription	HSMMtube	muscle
15	chr3:81662600-81688800	Weak transcription	Psoas Muscle	Psoas
16	chr3:81662800-81681800	Weak transcription	Liver	Liver
17	chr3:81662800-81690600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:81668000-81688800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:81668200-81688200	Weak transcription	HSMM	muscle
20	chr3:81672600-81682000	Weak transcription	Osteobl	bone
21	chr3:81672600-81682400	Weak transcription	NHDF-Ad	bronchial
22	chr3:81673000-81688800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:81674200-81682200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:81675600-81699600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:81675800-81682000	Weak transcription	Left Ventricle	heart
26	chr3:81675800-81696400	Weak transcription	HMEC	breast
27	chr3:81676000-81692000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:81677000-81689000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:81678400-81696800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:81678600-81701600	Strong transcription	Dnd41	blood
31	chr3:81678800-81691800	Weak transcription	HepG2	liver
32	chr3:81679200-81684000	Strong transcription	Adipose Nuclei	Adipose
33	chr3:81679200-81684600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:81679400-81683400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:81679600-81681800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:81679600-81687200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:81679800-81684600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:81680000-81692600	Weak transcription	GM12878-XiMat	blood
39	chr3:81680200-81682800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:81680400-81680600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr3:81680600-81698200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr3:81680600-81703000	Weak transcription	Hela-S3	cervix
43	chr3:81681200-81699600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:81681600-81684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:81681800-81682200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:81681800-81684400	Strong transcription	Liver	Liver
47	chr3:81682000-81682200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr3:81682000-81682200	Enhancers	Osteobl	bone
49	chr3:81682000-81684600	Strong transcription	Left Ventricle	heart
50	chr3:81682200-81682400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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