Variant report

Variant	nsv1013893
Chromosome Location	chr3:89381141-89419369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:
2	chr3:89374362..89376361-chr3:89384187..89386718,2	MCF-7	breast:
3	chr3:89350735..89353187-chr3:89378356..89381194,2	MCF-7	breast:

Extended variants
information (count: 1417 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1417 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548603128	chr3:89381150-89381151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150463549	chr3:89381200-89381201	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187505120	chr3:89381214-89381215	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191836835	chr3:89381232-89381233	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558634621	chr3:89381237-89381238	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs576890732	chr3:89381242-89381243	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs183720708	chr3:89381248-89381249	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567484667	chr3:89381257-89381258	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs555927897	chr3:89381311-89381312	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536047444	chr3:89381320-89381321	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs13069993	chr3:89381340-89381341	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs75090069	chr3:89381379-89381380	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555897295	chr3:89381389-89381390	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs75836593	chr3:89381410-89381411	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541756371	chr3:89381448-89381449	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560348740	chr3:89381460-89381461	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533324441	chr3:89381539-89381540	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571956710	chr3:89381680-89381681	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138177900	chr3:89381681-89381682	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564190499	chr3:89381719-89381720	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531411012	chr3:89381724-89381725	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544854568	chr3:89381777-89381778	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562930068	chr3:89381797-89381798	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530469864	chr3:89381799-89381800	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548601766	chr3:89381800-89381801	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115700215	chr3:89381833-89381834	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527698088	chr3:89381865-89381866	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188194017	chr3:89381890-89381891	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376150454	chr3:89381974-89381975	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545658524	chr3:89381992-89381993	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570647512	chr3:89382013-89382014	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537942471	chr3:89382016-89382017	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560764423	chr3:89382027-89382028	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs200192690	chr3:89382036-89382037	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369270491	chr3:89382081-89382082	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs111758069	chr3:89382089-89382090	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs544873901	chr3:89382149-89382150	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568166352	chr3:89382152-89382153	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528020579	chr3:89382169-89382170	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190499945	chr3:89382250-89382251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141232531	chr3:89382300-89382301	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145039409	chr3:89382325-89382326	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs372820173	chr3:89382327-89382328	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs545841932	chr3:89382342-89382343	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs182686285	chr3:89382348-89382349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576245408	chr3:89382353-89382354	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186951623	chr3:89382362-89382363	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs561773450	chr3:89382381-89382382	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530238031	chr3:89382409-89382410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573215341	chr3:89382413-89382414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89379400-89384000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:89380000-89382400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:89380000-89382800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:89380200-89381200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:89380200-89381400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:89380200-89382600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:89380200-89383000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:89380400-89381200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:89380600-89381400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:89381000-89382400	Enhancers	Brain Germinal Matrix	brain
11	chr3:89381000-89382800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:89381200-89381800	Enhancers	Psoas Muscle	Psoas
13	chr3:89381200-89382000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:89381200-89382000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:89381200-89382000	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:89381200-89382200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:89381200-89382200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:89381200-89382400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr3:89381200-89382400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr3:89381200-89382400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:89381200-89382800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:89381200-89383000	Enhancers	Fetal Brain Female	brain
23	chr3:89381400-89381800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr3:89381400-89382000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr3:89381400-89382000	Enhancers	Brain Angular Gyrus	brain
26	chr3:89381400-89382200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:89381400-89382200	Enhancers	Brain Substantia Nigra	brain
28	chr3:89381600-89382000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:89381600-89382000	Enhancers	Brain Anterior Caudate	brain
30	chr3:89381600-89382000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr3:89381600-89382000	Enhancers	Fetal Muscle Leg	muscle
32	chr3:89381600-89382200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:89381600-89382200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:89381600-89382200	Enhancers	Spleen	Spleen
35	chr3:89381600-89382400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:89381800-89383000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:89382000-89383600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:89382200-89382600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:89382200-89382600	Weak transcription	Spleen	Spleen
40	chr3:89382200-89382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:89382200-89383200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:89382400-89383400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:89382400-89383800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:89382400-89391200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:89382600-89383000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:89382600-89383000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:89382600-89383000	Enhancers	Spleen	Spleen
48	chr3:89382800-89383000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:89382800-89383200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:89382800-89391000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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