Variant report

Variant	nsv3889
Chromosome Location	chr3:79929718-79974707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:79925894..79927399-chr3:79928694..79930422,2	MCF-7	breast:
2	chr12:53846577..53847078-chr3:79971381..79971881,2	Hela-S3	cervix:
3	chr3:79936013..79938678-chr3:79939132..79941923,2	MCF-7	breast:
4	chr3:79936013..79938678-chr3:79939132..79941923,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197111	chromatin interactions

Extended variants
information (count: 529 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140422473	chr3:79929740-79929741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558878816	chr3:79929759-79929760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372462469	chr3:79929764-79929765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180838082	chr3:79929806-79929807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187577482	chr3:79929842-79929843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144395814	chr3:79929847-79929848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532436613	chr3:79929883-79929884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535292311	chr3:79929914-79929915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573416862	chr3:79929933-79929934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546076732	chr3:79929943-79929944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575475902	chr3:79929974-79929975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559686586	chr3:79929980-79929981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147416039	chr3:79929981-79929982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74943838	chr3:79929982-79929983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568050435	chr3:79929984-79929985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530661571	chr3:79929988-79929989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550304284	chr3:79929990-79929991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570155243	chr3:79930034-79930035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552554273	chr3:79930108-79930109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553205061	chr3:79930147-79930148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566846193	chr3:79930175-79930176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117152287	chr3:79930179-79930180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148481749	chr3:79930180-79930181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1354211	chr3:79930183-79930184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs73853841	chr3:79930211-79930212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558291084	chr3:79930236-79930237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533045349	chr3:79930243-79930244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540651165	chr3:79930301-79930302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151012671	chr3:79930306-79930307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140428444	chr3:79930320-79930321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557458387	chr3:79930363-79930364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545015760	chr3:79930381-79930382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541640945	chr3:79930387-79930388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369762912	chr3:79930391-79930392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62256425	chr3:79930393-79930394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375970597	chr3:79930394-79930395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565076803	chr3:79930413-79930414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561967199	chr3:79930459-79930460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75817042	chr3:79930462-79930463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371660822	chr3:79930497-79930498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570216671	chr3:79930517-79930518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564085311	chr3:79930555-79930556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6788310	chr3:79930571-79930572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567031128	chr3:79930592-79930593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536192050	chr3:79930661-79930662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77669621	chr3:79930715-79930716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75838417	chr3:79930759-79930760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563739772	chr3:79930776-79930777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191904770	chr3:79930792-79930793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546331091	chr3:79930799-79930800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79925000-79933400	Weak transcription	Fetal Heart	heart
2	chr3:79933400-79934000	Enhancers	Fetal Brain Female	brain
3	chr3:79933400-79934200	Enhancers	Fetal Brain Male	brain
4	chr3:79933400-79935600	Enhancers	Fetal Heart	heart
5	chr3:79933600-79934000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:79935200-79935600	Enhancers	Fetal Lung	lung
7	chr3:79953000-79953600	Enhancers	Fetal Intestine Small	intestine
8	chr3:79954400-79954600	Enhancers	Ovary	ovary
9	chr3:79955200-79955400	Active TSS	Ovary	ovary
10	chr3:79955400-79955600	Flanking Active TSS	Ovary	ovary
11	chr3:79955600-79959600	Weak transcription	Ovary	ovary
12	chr3:79959600-79959800	Enhancers	Ovary	ovary
13	chr3:79974400-79974600	Enhancers	HUVEC	blood vessel
14	chr3:79974600-79975000	Flanking Active TSS	HUVEC	blood vessel

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