Variant report

Variant	nsv581496
Chromosome Location	chr2:40082054-40123904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:40064756..40065596-chr2:40082708..40083242,2	MCF-7	breast:
2	chr2:40100537..40101165-chr2:40112091..40112603,2	MCF-7	breast:
3	chr2:40100537..40101165-chr2:40112091..40112603,2	MCF-7	breast:
4	chr2:40081608..40083244-chr2:40101423..40104022,3	MCF-7	breast:
5	chr2:40081608..40083244-chr2:40101423..40104022,3	MCF-7	breast:

Extended variants
information (count: 1358 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1358 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1541564	chr2:40082054-40082055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557381780	chr2:40082072-40082073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575752589	chr2:40082079-40082080	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553959268	chr2:40082126-40082127	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543094858	chr2:40082151-40082152	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561374806	chr2:40082158-40082159	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528236005	chr2:40082159-40082160	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191310869	chr2:40082177-40082178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs150365235	chr2:40082181-40082182	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138094984	chr2:40082185-40082186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs115944949	chr2:40082187-40082188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537533293	chr2:40082214-40082215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541076342	chr2:40082236-40082237	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113480542	chr2:40082237-40082238	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374309701	chr2:40082242-40082243	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372767840	chr2:40082243-40082244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs34887533	chr2:40082254-40082255	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376773823	chr2:40082300-40082301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs34000243	chr2:40082303-40082304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529651114	chr2:40082315-40082316	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552521227	chr2:40082322-40082323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs116157798	chr2:40082328-40082329	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570991328	chr2:40082333-40082334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs9678386	chr2:40082379-40082380	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547156089	chr2:40082385-40082386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183848098	chr2:40082442-40082443	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143014114	chr2:40082469-40082470	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557689321	chr2:40082489-40082490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs575667437	chr2:40082506-40082507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs138685996	chr2:40082509-40082510	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs554735002	chr2:40082535-40082536	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76640689	chr2:40082566-40082567	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs368919826	chr2:40082570-40082571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540413800	chr2:40082604-40082605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373089238	chr2:40082617-40082618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs565088201	chr2:40082675-40082676	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142748811	chr2:40082692-40082693	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187706738	chr2:40082743-40082744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs544061663	chr2:40082757-40082758	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs146970232	chr2:40082792-40082793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376736082	chr2:40082821-40082822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192864989	chr2:40082835-40082836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562057179	chr2:40082837-40082838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547760991	chr2:40082852-40082853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115945279	chr2:40082867-40082868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368806978	chr2:40082868-40082869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74930293	chr2:40082889-40082890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552032235	chr2:40082915-40082916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12712662	chr2:40082932-40082933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539243707	chr2:40082937-40082938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40077400-40083600	Enhancers	Primary hematopoietic stem cells	blood
2	chr2:40079400-40083000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:40079400-40087600	Weak transcription	HMEC	breast
4	chr2:40079800-40083400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:40081600-40082200	Enhancers	Fetal Thymus	thymus
6	chr2:40081600-40083600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:40081600-40083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:40081800-40082400	Enhancers	Primary B cells from cord blood	blood
9	chr2:40082000-40082800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:40082000-40082800	Enhancers	Dnd41	blood
11	chr2:40082000-40083400	Enhancers	Thymus	Thymus
12	chr2:40082800-40083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:40083000-40083400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:40083400-40083600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:40083400-40086000	Weak transcription	Thymus	Thymus
16	chr2:40083600-40084000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:40084000-40084600	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:40086000-40086200	Enhancers	Thymus	Thymus
19	chr2:40087600-40088200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:40087600-40088200	Enhancers	HMEC	breast
21	chr2:40087600-40088400	Enhancers	NHEK	skin
22	chr2:40087800-40088600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:40088200-40090800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:40088200-40092800	Weak transcription	HMEC	breast
25	chr2:40090800-40091400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:40091400-40092800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:40092400-40092600	Enhancers	Thymus	Thymus
28	chr2:40092400-40093800	Enhancers	Fetal Thymus	thymus
29	chr2:40092400-40094000	Enhancers	Dnd41	blood
30	chr2:40092600-40093000	Flanking Active TSS	Thymus	Thymus
31	chr2:40092800-40093200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:40092800-40093600	Enhancers	HMEC	breast
33	chr2:40093000-40094000	Enhancers	Thymus	Thymus
34	chr2:40093200-40097200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:40093600-40097200	Weak transcription	HMEC	breast
36	chr2:40094000-40098400	Weak transcription	Dnd41	blood
37	chr2:40097000-40098800	Enhancers	Fetal Stomach	stomach
38	chr2:40097200-40097400	Enhancers	Brain Anterior Caudate	brain
39	chr2:40097200-40098400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:40097200-40098600	Enhancers	HSMMtube	muscle
41	chr2:40097200-40098800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:40097200-40098800	Enhancers	NHLF	lung
43	chr2:40097200-40099200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:40097200-40099200	Enhancers	HMEC	breast
45	chr2:40097200-40099200	Enhancers	NHEK	skin
46	chr2:40097400-40097800	Enhancers	Fetal Heart	heart
47	chr2:40097400-40098000	Weak transcription	Brain Anterior Caudate	brain
48	chr2:40097400-40098400	Enhancers	Stomach Smooth Muscle	stomach
49	chr2:40097400-40099200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:40097400-40099200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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