Variant report

Variant	nsv1008293
Chromosome Location	chr3:89387089-89417287
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: 1119 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1119 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577499893	chr3:89387196-89387197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144469182	chr3:89387201-89387202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533739697	chr3:89387227-89387228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79924453	chr3:89387228-89387229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576701803	chr3:89387342-89387343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567591305	chr3:89387378-89387379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543838460	chr3:89387417-89387418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146641963	chr3:89387452-89387453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372668722	chr3:89387485-89387486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141455377	chr3:89387495-89387496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150188287	chr3:89387512-89387513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560159614	chr3:89387516-89387517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116448265	chr3:89387586-89387587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547193737	chr3:89387591-89387592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35484061	chr3:89387652-89387653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537828675	chr3:89387657-89387658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572008097	chr3:89387669-89387670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111453747	chr3:89387697-89387698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551001682	chr3:89387708-89387709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556566481	chr3:89387714-89387715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148953667	chr3:89387726-89387727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143710389	chr3:89387730-89387731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192544888	chr3:89387747-89387748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184880040	chr3:89387760-89387761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533765698	chr3:89387765-89387766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558314075	chr3:89387784-89387785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576767537	chr3:89387819-89387820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148023823	chr3:89387848-89387849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556384392	chr3:89387851-89387852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574365650	chr3:89387860-89387861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541781990	chr3:89387882-89387883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112015766	chr3:89387887-89387888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143647029	chr3:89387889-89387890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527369207	chr3:89387899-89387900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189347797	chr3:89387919-89387920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180840729	chr3:89387924-89387925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532708516	chr3:89387973-89387974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371287604	chr3:89387991-89387992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550998201	chr3:89387993-89387994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569497280	chr3:89388009-89388010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186385229	chr3:89388016-89388017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548538810	chr3:89388017-89388018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539093205	chr3:89388075-89388076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199545611	chr3:89388082-89388083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566658945	chr3:89388180-89388181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374424606	chr3:89388191-89388192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534019243	chr3:89388211-89388212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146104294	chr3:89388212-89388213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570315582	chr3:89388240-89388241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538011552	chr3:89388250-89388251	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:55 , 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	chr3:89382800-89391000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:89383000-89390200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:89386800-89393200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:89389200-89390400	Enhancers	Fetal Lung	lung
6	chr3:89389400-89390400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:89389600-89390200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:89389600-89390400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:89389800-89390600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:89390200-89390400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:89390200-89391000	Enhancers	Fetal Brain Male	brain
12	chr3:89390200-89391000	Enhancers	Fetal Brain Female	brain
13	chr3:89390200-89391200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:89390400-89394000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:89391000-89392600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:89391000-89394400	Weak transcription	Fetal Brain Female	brain
17	chr3:89392000-89392200	Enhancers	Fetal Brain Male	brain
18	chr3:89392600-89417400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:89393200-89394400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:89394400-89394600	Enhancers	Fetal Brain Female	brain
21	chr3:89400200-89401000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr3:89400200-89401000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr3:89400600-89401000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr3:89401000-89401200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr3:89401000-89401200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:89402200-89403200	Enhancers	Hela-S3	cervix
27	chr3:89404400-89417600	Weak transcription	Brain Germinal Matrix	brain
28	chr3:89407400-89407600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:89407800-89409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:89409000-89409800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:89409200-89409400	Enhancers	Fetal Lung	lung
32	chr3:89409200-89409600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:89409200-89409800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:89409200-89409800	Enhancers	Hela-S3	cervix
35	chr3:89409200-89410000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:89409400-89409800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:89409400-89410000	Enhancers	NHDF-Ad	bronchial
38	chr3:89409400-89410600	Weak transcription	Fetal Lung	lung
39	chr3:89409600-89410000	Enhancers	NH-A	brain
40	chr3:89410200-89410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:89410200-89410400	Enhancers	Fetal Brain Female	brain
42	chr3:89410400-89412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:89410400-89421200	Weak transcription	Fetal Brain Female	brain
44	chr3:89410600-89414000	Enhancers	Fetal Lung	lung
45	chr3:89411600-89411800	Enhancers	Fetal Muscle Leg	muscle
46	chr3:89411800-89412600	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:89412600-89413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:89412600-89413400	Enhancers	Fetal Muscle Leg	muscle
49	chr3:89413200-89413600	Enhancers	Rectal Smooth Muscle	rectum
50	chr3:89413400-89413800	Enhancers	Ovary	ovary

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