Variant report

Variant	nsv967258
Chromosome Location	chr3:94286134-94300566
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	chr3:94210684..94213221-chr3:94300303..94302225,2	MCF-7	breast:

Extended variants
information (count: 451 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549319224	chr3:94286181-94286182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186815778	chr3:94286205-94286206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531026377	chr3:94286222-94286223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140732235	chr3:94286223-94286224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567498051	chr3:94286232-94286233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529000434	chr3:94286275-94286276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375437978	chr3:94286405-94286406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116382039	chr3:94286441-94286442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150094730	chr3:94286473-94286474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1948182	chr3:94286491-94286492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557784833	chr3:94286503-94286504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571553274	chr3:94286513-94286514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188739405	chr3:94286526-94286527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557241001	chr3:94286535-94286536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573873886	chr3:94286544-94286545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181165582	chr3:94286562-94286563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150372695	chr3:94286588-94286589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185429113	chr3:94286608-94286609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9818503	chr3:94286709-94286710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115028226	chr3:94286717-94286718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145451548	chr3:94286730-94286731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189805267	chr3:94286804-94286805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544499868	chr3:94286814-94286815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140308981	chr3:94286832-94286833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530191154	chr3:94286838-94286839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183554410	chr3:94286874-94286875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145340424	chr3:94286907-94286908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528160729	chr3:94286937-94286938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551385026	chr3:94286966-94286967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571154410	chr3:94286972-94286973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187189628	chr3:94286988-94286989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9870987	chr3:94286997-94286998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192123188	chr3:94287000-94287001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536420692	chr3:94287029-94287030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553516371	chr3:94287050-94287051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183485588	chr3:94287058-94287059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542003054	chr3:94287067-94287068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188540506	chr3:94287095-94287096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138965326	chr3:94287096-94287097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142101662	chr3:94287138-94287139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112309102	chr3:94287155-94287156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191789562	chr3:94287188-94287189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561198685	chr3:94287198-94287199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182468550	chr3:94287254-94287255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540460714	chr3:94287287-94287288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371000427	chr3:94287331-94287332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186803448	chr3:94287347-94287348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528238583	chr3:94287414-94287415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551182195	chr3:94287434-94287435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564909250	chr3:94287439-94287440	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94285800-94286800	Weak transcription	Liver	Liver
2	chr3:94286800-94287600	Enhancers	Liver	Liver
3	chr3:94287600-94292000	Weak transcription	Liver	Liver
4	chr3:94291600-94292600	Enhancers	Adipose Nuclei	Adipose
5	chr3:94292000-94293000	Enhancers	Liver	Liver
6	chr3:94296000-94297400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:94297400-94297600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:94297600-94298000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:94298000-94298400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:94298000-94298800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:94298800-94299000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:94299000-94299800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:94299800-94300200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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