Variant report

Variant	nsv965195
Chromosome Location	chr3:110344540-110347453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376576799	chr3:110344587-110344588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544089165	chr3:110344607-110344608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62270086	chr3:110344658-110344659	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1512526	chr3:110344666-110344667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546217284	chr3:110344675-110344676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559828248	chr3:110344722-110344723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376340697	chr3:110344748-110344749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555823124	chr3:110344783-110344784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573445194	chr3:110344800-110344801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542541333	chr3:110344817-110344818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573578570	chr3:110344830-110344831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531100922	chr3:110344837-110344838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149146199	chr3:110344962-110344963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563793011	chr3:110344976-110344977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532902165	chr3:110345003-110345004	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145111345	chr3:110345090-110345091	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139743785	chr3:110345092-110345093	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs56173511	chr3:110345097-110345098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200900864	chr3:110345098-110345099	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs546172472	chr3:110345102-110345103	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566491269	chr3:110345160-110345161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573957907	chr3:110345165-110345166	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535126003	chr3:110345174-110345175	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs142271770	chr3:110345181-110345182	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs12635961	chr3:110345208-110345209	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4095510	chr3:110345276-110345277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs147968311	chr3:110345286-110345287	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535906186	chr3:110345293-110345294	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs556539758	chr3:110345298-110345299	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577409433	chr3:110345361-110345362	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs372636880	chr3:110345369-110345370	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141869645	chr3:110345400-110345401	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189954308	chr3:110345401-110345402	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1913089	chr3:110345403-110345404	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573166543	chr3:110345407-110345408	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs541877049	chr3:110345465-110345466	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116152792	chr3:110345468-110345469	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182506787	chr3:110345469-110345470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs1512525	chr3:110345508-110345509	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577665543	chr3:110345551-110345552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs1849369	chr3:110345601-110345602	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1849368	chr3:110345622-110345623	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546257634	chr3:110345670-110345671	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs187191778	chr3:110345674-110345675	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs138494019	chr3:110345701-110345702	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs548704404	chr3:110345705-110345706	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs114308956	chr3:110345738-110345739	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs191197309	chr3:110345771-110345772	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs111574563	chr3:110345774-110345775	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571495709	chr3:110345823-110345824	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Rett syndrome	21593744	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110338000-110345600	Weak transcription	Stomach Mucosa	stomach
2	chr3:110342600-110345200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr3:110342600-110345400	Weak transcription	Liver	Liver
4	chr3:110343400-110345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:110343400-110345200	Enhancers	Fetal Heart	heart
6	chr3:110343400-110345400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:110343600-110345000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:110343600-110345000	Enhancers	Fetal Lung	lung
9	chr3:110343800-110344600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:110343800-110344600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:110343800-110344600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:110343800-110344600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:110343800-110344600	Enhancers	Aorta	Aorta
14	chr3:110343800-110344600	Enhancers	Fetal Muscle Leg	muscle
15	chr3:110344200-110352400	Weak transcription	K562	blood
16	chr3:110344800-110345000	Enhancers	Dnd41	blood
17	chr3:110345000-110346400	Flanking Active TSS	Dnd41	blood
18	chr3:110345200-110345600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:110345200-110346200	Weak transcription	Fetal Heart	heart
20	chr3:110345200-110347600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:110345200-110347800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:110345400-110345600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:110345400-110345600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr3:110345400-110345600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:110345400-110345600	Enhancers	Liver	Liver
26	chr3:110345600-110345800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:110345600-110345800	Enhancers	Stomach Mucosa	stomach
28	chr3:110345600-110346000	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr3:110345600-110346000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:110345600-110346200	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr3:110345600-110346200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr3:110345600-110346200	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr3:110345600-110346400	Weak transcription	Liver	Liver
34	chr3:110345800-110346000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr3:110345800-110346000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:110345800-110346000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:110345800-110346200	Active TSS	Primary T cells fromperipheralblood	blood
38	chr3:110345800-110346200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr3:110345800-110346200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr3:110345800-110346200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:110345800-110346400	Enhancers	Primary B cells from peripheral blood	blood
42	chr3:110345800-110346400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:110346000-110346200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:110346000-110346200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:110346000-110346400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr3:110346000-110346400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr3:110346000-110346400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:110346200-110346400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr3:110346200-110346400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr3:110346200-110346400	Enhancers	Fetal Heart	heart

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