Variant report

Variant	nsv1002952
Chromosome Location	chr3:94972310-95025749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:94979836..94981879-chr3:94985858..94987938,2	MCF-7	breast:
2	chr3:94969252..94971265-chr3:94976399..94979300,2	MCF-7	breast:
3	chr3:94979836..94981879-chr3:94985858..94987938,2	MCF-7	breast:
4	chr3:95018524..95019390-chr9:5887461..5888104,2	MCF-7	breast:
5	chr3:94984837..94985538-chr7:121623818..121624737,2	MCF-7	breast:

Extended variants
information (count: 1413 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1413 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576756292	chr3:94973604-94973605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185900519	chr3:94973648-94973649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201724758	chr3:94973649-94973650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562572306	chr3:94973654-94973655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531800125	chr3:94973692-94973693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs11712554	chr3:94973710-94973711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371996387	chr3:94978024-94978025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78975653	chr3:94978031-94978032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548455742	chr3:94978066-94978067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567456247	chr3:94978069-94978070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527639693	chr3:94978127-94978128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547586962	chr3:94978194-94978195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374610434	chr3:94978196-94978197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12487233	chr3:94978197-94978198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141106690	chr3:94978243-94978244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142087820	chr3:94978244-94978245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542893291	chr3:94978281-94978282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554874602	chr3:94978287-94978288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574352972	chr3:94978323-94978324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151137376	chr3:94978338-94978339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184065498	chr3:94978385-94978386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576915093	chr3:94978432-94978433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545468929	chr3:94978452-94978453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562775261	chr3:94978495-94978496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187514069	chr3:94978541-94978542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192747662	chr3:94978589-94978590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144071888	chr3:94980024-94980025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180796545	chr3:94980077-94980078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9867279	chr3:94980118-94980119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144250426	chr3:94980122-94980123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569295203	chr3:94980158-94980159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs55872362	chr3:94980169-94980170	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113286333	chr3:94980208-94980209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548777561	chr3:94980230-94980231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148302410	chr3:94980250-94980251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575733128	chr3:94980290-94980291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543009691	chr3:94980362-94980363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188651056	chr3:94980459-94980460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558372132	chr3:94980492-94980493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530950304	chr3:94980502-94980503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181312105	chr3:94980504-94980505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114736555	chr3:94980510-94980511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557424519	chr3:94980557-94980558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573916366	chr3:94980613-94980614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200584110	chr3:94980621-94980622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147613056	chr3:94980622-94980623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs5850978	chr3:94980623-94980624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377348792	chr3:94980624-94980625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370341837	chr3:94980626-94980627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543128458	chr3:94980641-94980642	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94973600-94973800	ZNF genes & repeats	Esophagus	oesophagus
2	chr3:94978000-94978600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr3:94980000-94980800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:94980800-94984000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:94984000-94984600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:94988600-94988800	Enhancers	Fetal Brain Male	brain
7	chr3:94988800-94995800	Weak transcription	Fetal Brain Male	brain
8	chr3:94990000-94990600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr3:94990600-94996000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:94995800-94996000	Enhancers	Fetal Brain Male	brain
11	chr3:94995800-94997000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:94995800-94997200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:94996000-94996200	Enhancers	Brain Germinal Matrix	brain
14	chr3:94996000-94996600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:94996000-94996800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr3:94996000-94997600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:94996200-94996600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr3:94996200-94996600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:94996200-94997000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:94996200-94997400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:94996200-94997400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:94996400-94997000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:94996600-94997000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr3:94996800-94997000	Enhancers	Brain Germinal Matrix	brain
25	chr3:94997000-94997200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr3:94997000-94998000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:94997000-94998800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:94997000-94999600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:94997400-94999200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:94998800-94999400	Enhancers	Aorta	Aorta
31	chr3:94999000-94999400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr3:94999600-95000000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:94999600-95001400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:95000000-95000400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:95000000-95000400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:95000000-95000400	Enhancers	NH-A	brain
37	chr3:95000400-95000600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:95007800-95008600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:95007800-95008800	Enhancers	NH-A	brain
40	chr3:95007800-95009200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:95008800-95012200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:95009200-95020000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:95013000-95013200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:95013200-95014400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:95014400-95014600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:95014600-95015000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:95016600-95017000	Enhancers	NH-A	brain
48	chr3:95017000-95020600	Weak transcription	NH-A	brain
49	chr3:95017600-95018000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr3:95018400-95018600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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