Variant report

Variant	esv3415350
Chromosome Location	chr3:163790299-163828765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163756511..163759205-chr3:163797731..163799263,2	MCF-7	breast:
2	chr3:163816031..163818067-chr3:163819325..163821288,2	MCF-7	breast:
3	chr3:163816031..163818067-chr3:163819325..163821288,2	MCF-7	breast:
4	chr14:86195432..86196215-chr3:163793960..163794780,2	MCF-7	breast:

Extended variants
information (count: 1439 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1439 , 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	rs567056514	chr3:163790324-163790325	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373921870	chr3:163790342-163790343	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150058624	chr3:163790368-163790369	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561132577	chr3:163790378-163790379	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181944100	chr3:163790554-163790555	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1349608	chr3:163790566-163790567	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570200636	chr3:163790594-163790595	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184531999	chr3:163790619-163790620	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370463239	chr3:163790772-163790773	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73170708	chr3:163790773-163790774	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566332190	chr3:163790892-163790893	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6796566	chr3:163790903-163790904	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554515677	chr3:163790936-163790937	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528638666	chr3:163790940-163790941	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537078473	chr3:163790944-163790945	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535534939	chr3:163790946-163790947	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9822069	chr3:163791070-163791071	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs180785746	chr3:163791092-163791093	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552752532	chr3:163791137-163791138	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563451471	chr3:163791149-163791150	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573050487	chr3:163791239-163791240	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201573271	chr3:163791270-163791271	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199877728	chr3:163791272-163791273	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71156832	chr3:163791273-163791274	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78219160	chr3:163791274-163791275	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539570557	chr3:163791293-163791294	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541770907	chr3:163791294-163791295	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561306211	chr3:163791354-163791355	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200494037	chr3:163791372-163791373	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185635020	chr3:163791405-163791406	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188535164	chr3:163791413-163791414	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563770439	chr3:163791467-163791468	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370758690	chr3:163791468-163791469	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529355798	chr3:163791520-163791521	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1597794	chr3:163791521-163791522	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576275853	chr3:163791605-163791606	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552766446	chr3:163791656-163791657	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369175674	chr3:163791731-163791732	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113739423	chr3:163791752-163791753	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58045506	chr3:163791772-163791773	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149221732	chr3:163791857-163791858	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568769030	chr3:163791872-163791873	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1580039	chr3:163791884-163791885	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143131608	chr3:163791885-163791886	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181568970	chr3:163791890-163791891	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186588028	chr3:163791943-163791944	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192367720	chr3:163791991-163791992	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551737983	chr3:163792035-163792036	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552712444	chr3:163792054-163792055	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572973063	chr3:163792063-163792064	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163771800-163795600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163795600-163796000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163796000-163797400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163797400-163798800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:163798800-163803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:163803400-163804400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163804400-163805400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:163805400-163806800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:163806800-163811400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163811400-163814400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:163811800-163814400	Enhancers	Dnd41	blood
12	chr3:163814400-163832200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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