Variant report

Variant	nsv870256
Chromosome Location	chr3:89391047-89421451
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	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:

Extended variants
information (count: 1155 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1155 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371687854	chr3:89391054-89391055	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200415022	chr3:89391064-89391065	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533112669	chr3:89391111-89391112	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369310617	chr3:89391143-89391144	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551661971	chr3:89391173-89391174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144998277	chr3:89391196-89391197	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530556931	chr3:89391214-89391215	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56112995	chr3:89391215-89391216	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567063716	chr3:89391230-89391231	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571620668	chr3:89391238-89391239	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373524736	chr3:89391269-89391270	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139662889	chr3:89391274-89391275	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201174169	chr3:89391280-89391281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374595725	chr3:89391285-89391286	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375810644	chr3:89391292-89391293	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539611517	chr3:89391341-89391342	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558449149	chr3:89391368-89391369	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576637536	chr3:89391385-89391386	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543832523	chr3:89391421-89391422	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555464136	chr3:89391429-89391430	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574229945	chr3:89391440-89391441	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144376911	chr3:89391467-89391468	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559844038	chr3:89391502-89391503	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577926987	chr3:89391509-89391510	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544847069	chr3:89391595-89391596	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549223546	chr3:89391624-89391625	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188187911	chr3:89391736-89391737	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530706765	chr3:89391788-89391789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549010179	chr3:89391794-89391795	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115626202	chr3:89391821-89391822	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200454915	chr3:89391835-89391836	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146615853	chr3:89391938-89391939	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554271015	chr3:89391958-89391959	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546308362	chr3:89391960-89391961	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570984037	chr3:89391967-89391968	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572603266	chr3:89391985-89391986	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144807058	chr3:89392008-89392009	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377428613	chr3:89392009-89392010	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80261635	chr3:89392046-89392047	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540054111	chr3:89392082-89392083	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551664536	chr3:89392092-89392093	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570366714	chr3:89392094-89392095	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537339309	chr3:89392095-89392096	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562934361	chr3:89392096-89392097	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556049140	chr3:89392138-89392139	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192407242	chr3:89392170-89392171	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140176303	chr3:89392203-89392204	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183511864	chr3:89392220-89392221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578133837	chr3:89392246-89392247	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189364062	chr3:89392259-89392260	Strong transcription 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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89382400-89391200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:89386800-89393200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:89390200-89391200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:89390400-89394000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:89391000-89392600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:89391000-89394400	Weak transcription	Fetal Brain Female	brain
7	chr3:89392000-89392200	Enhancers	Fetal Brain Male	brain
8	chr3:89392600-89417400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:89393200-89394400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:89394400-89394600	Enhancers	Fetal Brain Female	brain
11	chr3:89400200-89401000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr3:89400200-89401000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr3:89400600-89401000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr3:89401000-89401200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr3:89401000-89401200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:89402200-89403200	Enhancers	Hela-S3	cervix
17	chr3:89404400-89417600	Weak transcription	Brain Germinal Matrix	brain
18	chr3:89407400-89407600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:89407800-89409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:89409000-89409800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:89409200-89409400	Enhancers	Fetal Lung	lung
22	chr3:89409200-89409600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:89409200-89409800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:89409200-89409800	Enhancers	Hela-S3	cervix
25	chr3:89409200-89410000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:89409400-89409800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:89409400-89410000	Enhancers	NHDF-Ad	bronchial
28	chr3:89409400-89410600	Weak transcription	Fetal Lung	lung
29	chr3:89409600-89410000	Enhancers	NH-A	brain
30	chr3:89410200-89410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:89410200-89410400	Enhancers	Fetal Brain Female	brain
32	chr3:89410400-89412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:89410400-89421200	Weak transcription	Fetal Brain Female	brain
34	chr3:89410600-89414000	Enhancers	Fetal Lung	lung
35	chr3:89411600-89411800	Enhancers	Fetal Muscle Leg	muscle
36	chr3:89411800-89412600	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:89412600-89413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:89412600-89413400	Enhancers	Fetal Muscle Leg	muscle
39	chr3:89413200-89413600	Enhancers	Rectal Smooth Muscle	rectum
40	chr3:89413400-89413800	Enhancers	Ovary	ovary
41	chr3:89413400-89415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:89414000-89418000	Weak transcription	Fetal Lung	lung
43	chr3:89415800-89417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:89417200-89417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:89417200-89418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:89417400-89417800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:89417600-89417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:89417600-89418000	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr3:89417800-89433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:89418000-89418200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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