Variant report

Variant	nsv590928
Chromosome Location	chr3:89389507-89442369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:89435683..89438107-chr3:89442264..89444057,2	MCF-7	breast:
2	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:
3	chr3:89425184..89427715-chr3:89431081..89433096,2	MCF-7	breast:
4	chr3:89435683..89438107-chr3:89442264..89444057,2	MCF-7	breast:
5	chr3:89425184..89427715-chr3:89431081..89433096,2	MCF-7	breast:

Extended variants
information (count: 2145 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2145 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9833400	chr3:89389507-89389508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149472156	chr3:89389549-89389550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183168613	chr3:89389663-89389664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539465256	chr3:89389717-89389718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532770004	chr3:89389832-89389833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375362527	chr3:89389909-89389910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186445840	chr3:89389911-89389912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576097547	chr3:89389974-89389975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190889380	chr3:89389988-89389989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555121330	chr3:89389989-89389990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370977398	chr3:89390022-89390023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551035204	chr3:89390037-89390038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559831321	chr3:89390066-89390067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201468736	chr3:89390074-89390075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182691254	chr3:89390092-89390093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200484511	chr3:89390101-89390102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142109561	chr3:89390143-89390144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545834194	chr3:89390166-89390167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148593404	chr3:89390170-89390171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368359032	chr3:89390202-89390203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564506073	chr3:89390210-89390211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531563474	chr3:89390221-89390222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543908017	chr3:89390236-89390237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200073830	chr3:89390254-89390255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561485829	chr3:89390289-89390290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187943475	chr3:89390338-89390339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547591452	chr3:89390439-89390440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111869908	chr3:89390442-89390443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566012037	chr3:89390493-89390494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528950098	chr3:89390497-89390498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75357086	chr3:89390557-89390558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539199167	chr3:89390586-89390587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113774757	chr3:89390662-89390663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569636985	chr3:89390707-89390708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183042709	chr3:89390722-89390723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187679358	chr3:89390736-89390737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368433748	chr3:89390745-89390746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549188494	chr3:89390767-89390768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535687131	chr3:89390774-89390775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193104763	chr3:89390804-89390805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572452560	chr3:89390807-89390808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567444203	chr3:89390809-89390810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558130380	chr3:89390845-89390846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184925715	chr3:89390849-89390850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143959319	chr3:89390858-89390859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369303082	chr3:89390874-89390875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116667804	chr3:89390875-89390876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374304049	chr3:89390888-89390889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541265914	chr3:89390893-89390894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140674679	chr3:89390915-89390916	Weak transcription Enhancers	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:137 , 50 per page) page: 1 2 3

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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