Variant report

Variant	nsv979791
Chromosome Location	chr3:160753362-160754754
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	chr3:160745725..160748261-chr3:160752866..160755134,2	MCF-7	breast:
2	chr3:160749654..160751759-chr3:160753566..160755069,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542569554	chr3:160753422-160753423	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562889444	chr3:160753427-160753428	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs114857897	chr3:160753481-160753482	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs116605040	chr3:160753558-160753559	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565371813	chr3:160753604-160753605	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182868629	chr3:160753644-160753645	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150158862	chr3:160753645-160753646	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561525871	chr3:160753698-160753699	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530408359	chr3:160753719-160753720	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548753119	chr3:160753730-160753731	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568816113	chr3:160753732-160753733	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537579230	chr3:160753769-160753770	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs551423805	chr3:160753789-160753790	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571128745	chr3:160753817-160753818	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs201249218	chr3:160753845-160753846	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533692248	chr3:160753914-160753915	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553657172	chr3:160753946-160753947	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs114041528	chr3:160753948-160753949	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs536543034	chr3:160754022-160754023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186180011	chr3:160754119-160754120	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs59483687	chr3:160754132-160754133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545186273	chr3:160754167-160754168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs34351622	chr3:160754304-160754305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565334183	chr3:160754366-160754367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572689753	chr3:160754411-160754412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145565294	chr3:160754412-160754413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141289516	chr3:160754464-160754465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530448201	chr3:160754473-160754474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190899866	chr3:160754481-160754482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183316001	chr3:160754513-160754514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531311060	chr3:160754548-160754549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551188290	chr3:160754549-160754550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544595018	chr3:160754608-160754609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13315565	chr3:160754626-160754627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs12630250	chr3:160754639-160754640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs543400932	chr3:160754640-160754641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75171739	chr3:160754642-160754643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563556884	chr3:160754717-160754718	Weak transcription Enhancers	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
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
abnormal development	18461090	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
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160745200-160782600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:160749800-160759000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:160752200-160755200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:160752200-160755200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr3:160753000-160753400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:160753000-160753400	Flanking Active TSS	Osteobl	bone
7	chr3:160753000-160753600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr3:160753000-160753800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:160753000-160753800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:160753000-160754000	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:160753000-160754000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr3:160753000-160754200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:160753000-160754200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:160753000-160755000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:160753200-160753400	Flanking Active TSS	NH-A	brain
16	chr3:160753200-160753600	Active TSS	Primary B cells from cord blood	blood
17	chr3:160753200-160754000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr3:160753200-160754200	Flanking Active TSS	HUVEC	blood vessel
19	chr3:160753400-160753600	Enhancers	Primary T cells from cord blood	blood
20	chr3:160753400-160753800	Active TSS	NH-A	brain
21	chr3:160753400-160754400	Enhancers	Osteobl	bone
22	chr3:160753600-160753800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr3:160753600-160754000	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr3:160753800-160754400	Enhancers	NH-A	brain
25	chr3:160753800-160755000	Enhancers	Primary B cells from cord blood	blood
26	chr3:160753800-160755200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:160753800-160763200	Weak transcription	Primary T cells from cord blood	blood
28	chr3:160754000-160755000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr3:160754000-160755200	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:160754000-160755200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:160754200-160755200	Enhancers	HUVEC	blood vessel
32	chr3:160754200-160760000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:160754400-160756200	Weak transcription	Osteobl	bone
34	chr3:160754400-160756600	Weak transcription	NH-A	brain

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