Variant report

Variant	nsv1008459
Chromosome Location	chr2:49041121-49062097
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	chr2:48996460..48999048-chr2:49041792..49043593,2	MCF-7	breast:

Extended variants
information (count: 968 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:968 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527973635	chr2:49041154-49041155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184026887	chr2:49041267-49041268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147374974	chr2:49041270-49041271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533254024	chr2:49041277-49041278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550428183	chr2:49041278-49041279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148017982	chr2:49041299-49041300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7603311	chr2:49041322-49041323	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189603150	chr2:49041347-49041348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548689921	chr2:49041361-49041362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572408067	chr2:49041369-49041370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113189368	chr2:49041392-49041393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181606110	chr2:49041418-49041419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555650543	chr2:49041500-49041501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186957080	chr2:49041568-49041569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141731871	chr2:49041573-49041574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111740534	chr2:49041614-49041615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577307948	chr2:49041621-49041622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76669415	chr2:49041738-49041739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559846314	chr2:49041743-49041744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536503560	chr2:49041763-49041764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139599494	chr2:49041822-49041823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114589227	chr2:49041858-49041859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143499337	chr2:49041892-49041893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532080447	chr2:49041954-49041955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374451683	chr2:49041968-49041969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112600590	chr2:49042003-49042004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571918334	chr2:49042030-49042031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71407524	chr2:49042031-49042032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569494481	chr2:49042032-49042033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532605094	chr2:49042052-49042053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146293641	chr2:49042084-49042085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139490892	chr2:49042087-49042088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13025362	chr2:49042131-49042132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144221909	chr2:49042219-49042220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567536262	chr2:49042241-49042242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60324887	chr2:49042243-49042244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145246817	chr2:49042299-49042300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541727682	chr2:49042359-49042360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567094808	chr2:49042394-49042395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9636432	chr2:49042399-49042400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs577417605	chr2:49042465-49042466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71399089	chr2:49042485-49042486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13026157	chr2:49042486-49042487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148744844	chr2:49042488-49042489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13026374	chr2:49042517-49042518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560765580	chr2:49042550-49042551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72811860	chr2:49042555-49042556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544133111	chr2:49042565-49042566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190588087	chr2:49042568-49042569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142382319	chr2:49042594-49042595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Breast cancer	17603634	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49037200-49045400	Weak transcription	Ovary	ovary
3	chr2:49039800-49043600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:49040400-49041200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:49041200-49041400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:49042400-49042600	Enhancers	Fetal Intestine Small	intestine
7	chr2:49042600-49043400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:49043400-49045600	Enhancers	Fetal Intestine Small	intestine
9	chr2:49043600-49047000	Enhancers	Fetal Intestine Large	intestine
10	chr2:49045400-49045800	Enhancers	Ovary	ovary
11	chr2:49045800-49046000	Weak transcription	Ovary	ovary
12	chr2:49046000-49046600	Enhancers	Ovary	ovary
13	chr2:49046200-49047000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:49046200-49047800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:49046600-49053200	Weak transcription	Ovary	ovary
16	chr2:49054000-49054400	Enhancers	Fetal Intestine Large	intestine
17	chr2:49055200-49056000	Enhancers	NH-A	brain
18	chr2:49055200-49056400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:49055200-49056600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:49055400-49056000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:49055800-49056200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:49055800-49056200	Enhancers	Osteobl	bone
23	chr2:49062000-49062400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links