Variant report

Variant	nsv592142
Chromosome Location	chr3:161475537-161531378
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	chr3:161472760..161474501-chr3:161478505..161480497,2	K562	blood:
2	chr3:161518824..161521549-chr3:161537494..161539506,2	MCF-7	breast:

Extended variants
information (count: 1225 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9832859	chr3:161475537-161475538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11328318	chr3:161475544-161475545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558523089	chr3:161475554-161475555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529670482	chr3:161475599-161475600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73168081	chr3:161475637-161475638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569937718	chr3:161475651-161475652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538949462	chr3:161475684-161475685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11445865	chr3:161475686-161475687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202174734	chr3:161475687-161475688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558455683	chr3:161475701-161475702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73016534	chr3:161475773-161475774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534805637	chr3:161475796-161475797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555086834	chr3:161475797-161475798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574602999	chr3:161475798-161475799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190524274	chr3:161475800-161475801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570763138	chr3:161475805-161475806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539760897	chr3:161475812-161475813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577089280	chr3:161475817-161475818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183228415	chr3:161475831-161475832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559685697	chr3:161475879-161475880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149518173	chr3:161475898-161475899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189224970	chr3:161475905-161475906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560989841	chr3:161475908-161475909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17424987	chr3:161475954-161475955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549769311	chr3:161475967-161475968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531506270	chr3:161476003-161476004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75914349	chr3:161476082-161476083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60125032	chr3:161476095-161476096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552491806	chr3:161476096-161476097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77064287	chr3:161476105-161476106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146022373	chr3:161476121-161476122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139980722	chr3:161476151-161476152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150500643	chr3:161476158-161476159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142723325	chr3:161476206-161476207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146060969	chr3:161476212-161476213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556923485	chr3:161476219-161476220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368001882	chr3:161476233-161476234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576871708	chr3:161476243-161476244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148729487	chr3:161476279-161476280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536585737	chr3:161476311-161476312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371828138	chr3:161476373-161476374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376990503	chr3:161476380-161476381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192257928	chr3:161476436-161476437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541498734	chr3:161476453-161476454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369596759	chr3:161476507-161476508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142334702	chr3:161476541-161476542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182956971	chr3:161476549-161476550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568503032	chr3:161476562-161476563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9838241	chr3:161476570-161476571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187666900	chr3:161476574-161476575	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161474000-161476400	Weak transcription	Dnd41	blood
2	chr3:161476400-161477800	Enhancers	Dnd41	blood
3	chr3:161476600-161476800	Enhancers	Placenta	Placenta
4	chr3:161477400-161477600	Enhancers	Placenta	Placenta
5	chr3:161483400-161484200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr3:161483800-161484800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:161483800-161485000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:161484200-161484600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:161484200-161484600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:161484200-161484600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr3:161484200-161484600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:161484200-161484800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:161484200-161484800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:161484600-161484800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr3:161484800-161486000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:161486000-161486200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr3:161486200-161486600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:161486200-161488400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:161487600-161488000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:161487600-161489600	Enhancers	Primary hematopoietic stem cells	blood
21	chr3:161487800-161488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:161487800-161489200	Enhancers	GM12878-XiMat	blood
23	chr3:161487800-161489400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:161488000-161488200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:161488000-161488600	Enhancers	NH-A	brain
26	chr3:161488000-161490400	Enhancers	Dnd41	blood
27	chr3:161488200-161488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:161488400-161488600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr3:161488600-161489000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:161488800-161490400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:161489000-161489400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:161489200-161489400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr3:161490400-161490800	Weak transcription	Dnd41	blood
34	chr3:161490800-161492800	Enhancers	Dnd41	blood
35	chr3:161497000-161507200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:161498800-161499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:161498800-161499800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:161498800-161499800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:161499000-161499200	Enhancers	A549	lung
40	chr3:161499000-161499600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:161499000-161499600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:161499000-161499800	Enhancers	Dnd41	blood
43	chr3:161499200-161499600	Active TSS	A549	lung
44	chr3:161499200-161499800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:161499200-161499800	Enhancers	Fetal Lung	lung
46	chr3:161499400-161499800	Active TSS	Liver	Liver
47	chr3:161499600-161499800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:161502200-161502400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:161502600-161503800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:161503600-161505200	Enhancers	HUES48 Cell Line	embryonic stem cell

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