Variant report

Variant	nsv967050
Chromosome Location	chr3:110400878-110402669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538296156	chr3:110400884-110400885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77150724	chr3:110400961-110400962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376523259	chr3:110401005-110401006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113398685	chr3:110401054-110401055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55740136	chr3:110401110-110401111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531443666	chr3:110401160-110401161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190454516	chr3:110401193-110401194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559367876	chr3:110401202-110401203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370997340	chr3:110401247-110401248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199694878	chr3:110401313-110401314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568101200	chr3:110401321-110401322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111339926	chr3:110401325-110401326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550919356	chr3:110401338-110401339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181443493	chr3:110401416-110401417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55633814	chr3:110401432-110401433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539584474	chr3:110401437-110401438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185880950	chr3:110401449-110401450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138687611	chr3:110401465-110401466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534817400	chr3:110401471-110401472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36104081	chr3:110401486-110401487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189947900	chr3:110401490-110401491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543687102	chr3:110401491-110401492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557268829	chr3:110401499-110401500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181176001	chr3:110401516-110401517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546353067	chr3:110401519-110401520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559703266	chr3:110401535-110401536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370424788	chr3:110401571-110401572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186535676	chr3:110401640-110401641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541989282	chr3:110401656-110401657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561644577	chr3:110401684-110401685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569520136	chr3:110401695-110401696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142268271	chr3:110401697-110401698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550609295	chr3:110401736-110401737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4510407	chr3:110401766-110401767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs7615275	chr3:110401792-110401793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142427477	chr3:110401793-110401794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139723562	chr3:110401814-110401815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112005379	chr3:110401872-110401873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566590305	chr3:110401884-110401885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534790022	chr3:110401932-110401933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554672600	chr3:110401948-110401949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568099891	chr3:110401980-110401981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182717252	chr3:110401995-110401996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144390217	chr3:110402001-110402002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367722237	chr3:110402028-110402029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144518827	chr3:110402047-110402048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148429634	chr3:110402051-110402052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537820833	chr3:110402054-110402055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187256455	chr3:110402062-110402063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55972144	chr3:110402063-110402064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110397000-110402600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:110398400-110402600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:110398400-110402800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:110398400-110404600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:110398600-110403000	Weak transcription	Fetal Lung	lung
6	chr3:110400000-110404600	Weak transcription	Fetal Brain Male	brain
7	chr3:110400400-110401000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:110400800-110402400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:110401000-110402800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:110402400-110406800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:110402600-110402800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:110402600-110403200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:110402600-110403400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr3:110402600-110403600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr3:110402600-110403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:110402600-110404000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:110402600-110404600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:110402600-110404800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:110402600-110406600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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