Variant report

Variant	nsv967260
Chromosome Location	chr3:95001173-95021114
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	chr3:95018524..95019390-chr9:5887461..5888104,2	MCF-7	breast:

Extended variants
information (count: 584 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535471265	chr3:95001201-95001202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530946743	chr3:95001250-95001251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555876414	chr3:95001280-95001281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546161230	chr3:95001334-95001335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62269399	chr3:95001360-95001361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12489010	chr3:95001385-95001386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538842085	chr3:95007806-95007807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113421587	chr3:95007830-95007831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7432472	chr3:95007840-95007841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569431845	chr3:95007905-95007906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538252119	chr3:95007906-95007907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190518589	chr3:95007914-95007915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139445044	chr3:95007958-95007959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534245331	chr3:95007975-95007976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144158894	chr3:95007989-95007990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534853131	chr3:95007997-95007998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74813265	chr3:95008037-95008038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544855294	chr3:95008095-95008096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565220571	chr3:95008098-95008099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180809254	chr3:95008100-95008101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555039566	chr3:95008126-95008127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544219906	chr3:95008141-95008142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183961631	chr3:95008158-95008159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377422866	chr3:95008212-95008213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188631608	chr3:95008231-95008232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546333139	chr3:95008254-95008255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181298482	chr3:95008269-95008270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532772858	chr3:95008297-95008298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72922642	chr3:95008300-95008301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148612711	chr3:95008325-95008326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185902560	chr3:95008328-95008329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16855681	chr3:95008333-95008334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569576640	chr3:95008340-95008341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190715058	chr3:95008366-95008367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142039984	chr3:95008384-95008385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181867370	chr3:95008411-95008412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538843509	chr3:95008435-95008436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75058659	chr3:95008463-95008464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76234800	chr3:95008486-95008487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544140282	chr3:95008495-95008496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531418176	chr3:95008517-95008518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187289394	chr3:95008525-95008526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546385436	chr3:95008552-95008553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139822341	chr3:95008567-95008568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574120586	chr3:95008579-95008580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539823646	chr3:95008628-95008629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559829076	chr3:95008632-95008633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114051549	chr3:95008639-95008640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192134290	chr3:95008653-95008654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151180797	chr3:95008705-95008706	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Breast cancer	21364760	CNVD
Autism	20531469	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94999600-95001400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:95007800-95008600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:95007800-95008800	Enhancers	NH-A	brain
4	chr3:95007800-95009200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:95008800-95012200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:95009200-95020000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:95013000-95013200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:95013200-95014400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:95014400-95014600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:95014600-95015000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:95016600-95017000	Enhancers	NH-A	brain
12	chr3:95017000-95020600	Weak transcription	NH-A	brain
13	chr3:95017600-95018000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:95018400-95018600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:95019200-95020200	Enhancers	Fetal Intestine Small	intestine
16	chr3:95020000-95021600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:95020200-95020800	Weak transcription	Fetal Intestine Small	intestine
18	chr3:95020600-95021000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:95020600-95021600	Enhancers	NH-A	brain
20	chr3:95021000-95021200	Enhancers	Fetal Intestine Small	intestine

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