Variant report

Variant	nsv590361
Chromosome Location	chr3:55834871-55876104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:55850876..55853376-chr3:55857822..55860534,2	MCF-7	breast:
2	chr1:19587574..19589877-chr3:55844063..55845564,2	K562	blood:
3	chr3:55850876..55853376-chr3:55857822..55860534,2	MCF-7	breast:

Extended variants
information (count: 1053 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1053 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545281558	chr3:55838221-55838222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572670185	chr3:55838256-55838257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9813755	chr3:55838313-55838314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75849295	chr3:55838325-55838326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80077166	chr3:55838340-55838341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9813529	chr3:55838342-55838343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116862964	chr3:55838345-55838346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532301332	chr3:55838403-55838404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370222991	chr3:55838427-55838428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9813675	chr3:55838431-55838432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79730090	chr3:55838435-55838436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528412680	chr3:55838444-55838445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141414000	chr3:55838465-55838466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73831514	chr3:55838470-55838471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185343000	chr3:55838476-55838477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs118119881	chr3:55838501-55838502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371360161	chr3:55838555-55838556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570066825	chr3:55838588-55838589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117090651	chr3:55838599-55838600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147015598	chr3:55838606-55838607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375332031	chr3:55838660-55838661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113654005	chr3:55838664-55838665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535032250	chr3:55838668-55838669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554846265	chr3:55838680-55838681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138077158	chr3:55838695-55838696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9817798	chr3:55838721-55838722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13069069	chr3:55838740-55838741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150523028	chr3:55838744-55838745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545965328	chr3:55838751-55838752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374332646	chr3:55838776-55838777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559327795	chr3:55838796-55838797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116629567	chr3:55838798-55838799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548454820	chr3:55838813-55838814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74355172	chr3:55838821-55838822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189029828	chr3:55838832-55838833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549927952	chr3:55838877-55838878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570111922	chr3:55838906-55838907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9838012	chr3:55838948-55838949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538663587	chr3:55838960-55838961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368807927	chr3:55838981-55838982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113705314	chr3:55839053-55839054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566095775	chr3:55839096-55839097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534898431	chr3:55839148-55839149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554809366	chr3:55839154-55839155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181381148	chr3:55839157-55839158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550868117	chr3:55839203-55839204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4129821	chr3:55839251-55839252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186300452	chr3:55839267-55839268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192252971	chr3:55839275-55839276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182763883	chr3:55839288-55839289	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:55838200-55838600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:55838200-55839600	Enhancers	Fetal Stomach	stomach
3	chr3:55838400-55838800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:55838600-55839000	Enhancers	Pancreas	Pancrea
5	chr3:55842000-55842400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:55842400-55846400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:55846000-55847600	Enhancers	Lung	lung
8	chr3:55846200-55846800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:55846400-55848000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:55846800-55847000	Bivalent Enhancer	Fetal Lung	lung
11	chr3:55847200-55847600	Enhancers	Fetal Lung	lung
12	chr3:55847400-55848000	Enhancers	Adipose Nuclei	Adipose
13	chr3:55847400-55848000	Enhancers	Placenta	Placenta
14	chr3:55847600-55860200	Weak transcription	Fetal Lung	lung
15	chr3:55848000-55852800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:55851600-55852200	Enhancers	Brain Germinal Matrix	brain
17	chr3:55852000-55852600	Enhancers	Fetal Heart	heart
18	chr3:55852400-55853200	Enhancers	Brain Hippocampus Middle	brain
19	chr3:55852400-55853400	Enhancers	Gastric	stomach
20	chr3:55852600-55853200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:55852600-55853400	Enhancers	Brain Cingulate Gyrus	brain
22	chr3:55852800-55853200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:55852800-55853400	Enhancers	Brain Substantia Nigra	brain
24	chr3:55852800-55854200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:55853000-55853400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr3:55858600-55858800	Enhancers	Fetal Heart	heart
27	chr3:55858800-55860000	Weak transcription	Fetal Heart	heart
28	chr3:55859800-55860400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:55860000-55861800	Enhancers	Fetal Heart	heart
30	chr3:55860200-55862200	Enhancers	Fetal Lung	lung
31	chr3:55860400-55860600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr3:55860400-55861200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:55860600-55861200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:55860600-55861600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:55860800-55861000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:55860800-55861200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:55860800-55861200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:55860800-55861200	Enhancers	Brain Germinal Matrix	brain
39	chr3:55860800-55861200	Enhancers	NH-A	brain
40	chr3:55861000-55861200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:55861000-55861200	Enhancers	Brain Hippocampus Middle	brain
42	chr3:55861000-55861200	Active TSS	Right Atrium	heart
43	chr3:55861000-55862200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:55861000-55862200	Active TSS	Brain Substantia Nigra	brain
45	chr3:55861200-55861800	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:55861200-55863600	Weak transcription	Right Atrium	heart
47	chr3:55861400-55862400	Enhancers	Fetal Kidney	kidney
48	chr3:55861600-55861800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:55861600-55861800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:55861600-55862000	Active TSS	Brain Anterior Caudate	brain

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