Variant report

Variant	nsv508227
Chromosome Location	chr3:89509154-89523173
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	chr3:89504768..89506340-chr3:89522107..89525061,2	MCF-7	breast:

Extended variants
information (count: 359 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569291840	chr3:89509163-89509164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568354437	chr3:89509172-89509173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186970345	chr3:89509195-89509196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34819360	chr3:89509229-89509230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150353807	chr3:89509242-89509243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77197588	chr3:89509294-89509295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539614439	chr3:89509308-89509309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190413320	chr3:89509338-89509339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181307892	chr3:89509364-89509365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543140504	chr3:89509378-89509379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185329876	chr3:89509404-89509405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573533395	chr3:89509416-89509417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558335596	chr3:89509488-89509489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138064258	chr3:89509503-89509504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573498855	chr3:89509532-89509533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112087049	chr3:89509550-89509551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556124792	chr3:89509556-89509557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143732498	chr3:89509574-89509575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564350485	chr3:89509579-89509580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80352065	chr3:89509580-89509581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189796646	chr3:89509591-89509592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550003745	chr3:89509592-89509593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568570036	chr3:89509612-89509613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541503446	chr3:89509626-89509627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535447265	chr3:89509705-89509706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547834356	chr3:89509765-89509766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565933807	chr3:89509773-89509774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539751755	chr3:89509861-89509862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558123214	chr3:89509862-89509863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576150966	chr3:89509919-89509920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537276618	chr3:89509934-89509935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182353666	chr3:89509945-89509946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555156144	chr3:89509966-89509967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369572746	chr3:89509974-89509975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201843797	chr3:89510073-89510074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386663326	chr3:89510080-89510081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570269167	chr3:89510081-89510082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375199255	chr3:89510125-89510126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3860568	chr3:89510128-89510129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7647741	chr3:89510238-89510239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201105456	chr3:89510590-89510591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9637529	chr3:89511229-89511230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7433780	chr3:89511231-89511232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9637530	chr3:89511250-89511251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9637531	chr3:89511293-89511294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573698709	chr3:89511349-89511350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7427734	chr3:89511386-89511387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9637532	chr3:89511667-89511668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199810548	chr3:89511999-89512000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200016271	chr3:89512275-89512276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89460800-89521200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:89500800-89532400	Weak transcription	Fetal Brain Female	brain
3	chr3:89501400-89521600	Weak transcription	Brain Germinal Matrix	brain
4	chr3:89504000-89519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:89506600-89527800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:89509000-89517000	Weak transcription	Fetal Stomach	stomach
7	chr3:89515800-89516200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:89515800-89516200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr3:89515800-89516200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:89516200-89516600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:89516200-89516800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:89516600-89517200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:89516600-89517600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:89516800-89517200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:89516800-89517400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:89516800-89517400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:89516800-89517600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:89517000-89517200	Enhancers	Fetal Muscle Leg	muscle
19	chr3:89517000-89517400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:89517000-89517400	Enhancers	Fetal Stomach	stomach
21	chr3:89517200-89527600	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:89517400-89523400	Weak transcription	Fetal Stomach	stomach
23	chr3:89519800-89520200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:89520200-89521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:89521200-89521800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr3:89521400-89523000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:89521600-89523000	Strong transcription	Brain Germinal Matrix	brain
28	chr3:89521800-89528000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:89523000-89523800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:89523000-89530000	Weak transcription	Brain Germinal Matrix	brain

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