Variant report

Variant	nsv1012385
Chromosome Location	chr3:163768897-163831252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:86195432..86196215-chr3:163793960..163794780,2	MCF-7	breast:
2	chr15:52587462..52588981-chr3:163831086..163833177,2	MCF-7	breast:
3	chr3:163816031..163818067-chr3:163819325..163821288,2	MCF-7	breast:
4	chr3:163816031..163818067-chr3:163819325..163821288,2	MCF-7	breast:
5	chr3:163756511..163759205-chr3:163797731..163799263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128833	chromatin interactions

Extended variants
information (count: 2414 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2414 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11915927	chr3:163768897-163768898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542791506	chr3:163768924-163768925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138278835	chr3:163768948-163768949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576403151	chr3:163768963-163768964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545331299	chr3:163769005-163769006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11923619	chr3:163769007-163769008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533385430	chr3:163769009-163769010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141301108	chr3:163769011-163769012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145095367	chr3:163769028-163769029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12490029	chr3:163769079-163769080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528059164	chr3:163769081-163769082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376237236	chr3:163769084-163769085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148355601	chr3:163769086-163769087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569151155	chr3:163769092-163769093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73168289	chr3:163769093-163769094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141569432	chr3:163769113-163769114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570885933	chr3:163769119-163769120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533558284	chr3:163769149-163769150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150916634	chr3:163769192-163769193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184426689	chr3:163769226-163769227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536009588	chr3:163769255-163769256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188156229	chr3:163769258-163769259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191647881	chr3:163769270-163769271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528235552	chr3:163769299-163769300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565193615	chr3:163769309-163769310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572400819	chr3:163769313-163769314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540597111	chr3:163769316-163769317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559914787	chr3:163769331-163769332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560329748	chr3:163769338-163769339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529378336	chr3:163769347-163769348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549220719	chr3:163769352-163769353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369472861	chr3:163769366-163769367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147853675	chr3:163769374-163769375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34970811	chr3:163769421-163769422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs137893129	chr3:163769442-163769443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565065438	chr3:163769446-163769447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551626919	chr3:163769484-163769485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149446348	chr3:163769505-163769506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534253927	chr3:163769524-163769525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547367309	chr3:163769532-163769533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552068115	chr3:163769534-163769535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73876549	chr3:163769545-163769546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536296190	chr3:163769549-163769550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556006599	chr3:163769600-163769601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569831621	chr3:163769612-163769613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75729693	chr3:163769625-163769626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531338783	chr3:163769634-163769635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558812421	chr3:163769659-163769660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572365083	chr3:163769663-163769664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541005574	chr3:163769690-163769691	Weak transcription	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163758400-163771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163771800-163795600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163795600-163796000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163796000-163797400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:163797400-163798800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:163798800-163803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163803400-163804400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:163804400-163805400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:163805400-163806800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163806800-163811400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:163811400-163814400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:163811800-163814400	Enhancers	Dnd41	blood
13	chr3:163814400-163832200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:163831200-163831600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:163831200-163831600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:163831200-163832000	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links