Variant report

Variant	nsv10271
Chromosome Location	chr3:50890189-50913514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50899740..50900296-chr3:51008634..51009161,2	MCF-7	breast:
2	chr3:50899718..50900413-chr3:51408583..51409247,2	K562	blood:
3	chr3:50899377..50900293-chr3:51119563..51120417,2	MCF-7	breast:
4	chr3:50899617..50900293-chr3:51227624..51228149,2	MCF-7	breast:

Extended variants
information (count: 772 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182013019	chr3:50890245-50890246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34498810	chr3:50890267-50890268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538019526	chr3:50890327-50890328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530468063	chr3:50890462-50890463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549825535	chr3:50890587-50890588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571553493	chr3:50890619-50890620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538915163	chr3:50890640-50890641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574826066	chr3:50890669-50890670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553850518	chr3:50890707-50890708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75999149	chr3:50890729-50890730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112948729	chr3:50890730-50890731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78699387	chr3:50890741-50890742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145737627	chr3:50890780-50890781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138024223	chr3:50890799-50890800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2085582	chr3:50890839-50890840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560385640	chr3:50890869-50890870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574173263	chr3:50890914-50890915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544756488	chr3:50890941-50890942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567009284	chr3:50890942-50890943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562923629	chr3:50890948-50890949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577943617	chr3:50890949-50890950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572193140	chr3:50890978-50890979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115981680	chr3:50890984-50890985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541975724	chr3:50890994-50890995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186252484	chr3:50891017-50891018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142589164	chr3:50891057-50891058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112347553	chr3:50891072-50891073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377611588	chr3:50891293-50891294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs398105863	chr3:50891301-50891302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs67568922	chr3:50891302-50891303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34477666	chr3:50891307-50891308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144124369	chr3:50891341-50891342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190715740	chr3:50891389-50891390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148694008	chr3:50891402-50891403	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs141134311	chr3:50891430-50891431	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs532490454	chr3:50891447-50891448	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2085581	chr3:50891492-50891493	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565681798	chr3:50891493-50891494	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543559890	chr3:50891514-50891515	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs563637951	chr3:50891516-50891517	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554381995	chr3:50891517-50891518	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs569765456	chr3:50891564-50891565	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532572234	chr3:50891604-50891605	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs556760751	chr3:50891671-50891672	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374329947	chr3:50891767-50891768	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs577803741	chr3:50891793-50891794	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs111755337	chr3:50891805-50891806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139517415	chr3:50891806-50891807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77103947	chr3:50891871-50891872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79475684	chr3:50891872-50891873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50886000-50899800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:50889000-50891400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:50889200-50899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:50889400-50890800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:50889400-50890800	Weak transcription	HMEC	breast
6	chr3:50890800-50891400	Enhancers	HMEC	breast
7	chr3:50890800-50892200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:50891400-50891800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:50891400-50891800	Active TSS	HMEC	breast
10	chr3:50891400-50891800	Enhancers	HSMMtube	muscle
11	chr3:50891600-50891800	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:50891800-50892200	Enhancers	HMEC	breast
13	chr3:50891800-50896000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:50891800-50899600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:50896000-50896600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:50896000-50896600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:50896000-50896800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:50896000-50897200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:50896200-50897200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:50896400-50897000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:50896600-50896800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:50896600-50897400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:50896800-50897200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:50896800-50898000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:50897000-50897800	Enhancers	Stomach Smooth Muscle	stomach
26	chr3:50897000-50898000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:50897200-50897400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:50897200-50897600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr3:50897200-50897600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr3:50897200-50897800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:50897200-50897800	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:50897200-50898000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:50897200-50898400	Enhancers	Left Ventricle	heart
34	chr3:50897200-50899400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:50897400-50897800	Enhancers	Right Ventricle	heart
36	chr3:50897400-50899400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:50897400-50910000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:50897600-50898200	Enhancers	Brain Angular Gyrus	brain
39	chr3:50897800-50899800	Weak transcription	Right Ventricle	heart
40	chr3:50898000-50898200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:50898000-50898200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:50898000-50898400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:50898200-50898800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:50898200-50899800	Weak transcription	Brain Angular Gyrus	brain
45	chr3:50898400-50898600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:50898400-50899600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:50898400-50900000	Weak transcription	Left Ventricle	heart
48	chr3:50898400-50910200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:50898600-50899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:50898800-50899600	Enhancers	HUES6 Cell Line	embryonic stem cell

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