Variant report

Variant	nsv508141
Chromosome Location	chr2:49490768-49545631
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	chr2:49467020..49468811-chr2:49494310..49496052,2	MCF-7	breast:

Extended variants
information (count: 1331 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1331 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536112696	chr2:49490778-49490779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141158804	chr2:49490799-49490800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112317656	chr2:49490819-49490820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187173824	chr2:49490852-49490853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537169278	chr2:49490861-49490862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191885426	chr2:49490885-49490886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73929010	chr2:49490916-49490917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541041757	chr2:49490956-49490957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150734250	chr2:49490979-49490980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138016961	chr2:49490997-49490998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542108482	chr2:49491023-49491024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563587014	chr2:49491033-49491034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530988648	chr2:49491037-49491038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113326389	chr2:49491066-49491067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552288479	chr2:49491068-49491069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564621926	chr2:49491141-49491142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528552434	chr2:49491145-49491146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184832180	chr2:49491152-49491153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568350686	chr2:49491158-49491159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557792902	chr2:49491164-49491165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530048836	chr2:49491232-49491233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11125228	chr2:49491312-49491313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143626286	chr2:49491316-49491317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79823701	chr2:49491326-49491327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369024267	chr2:49491328-49491329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558756835	chr2:49491351-49491352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533919938	chr2:49491385-49491386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570529529	chr2:49491389-49491390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10189901	chr2:49491400-49491401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552973611	chr2:49491413-49491414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73929012	chr2:49491424-49491425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs140595956	chr2:49491442-49491443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557217877	chr2:49491445-49491446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17038549	chr2:49491455-49491456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs57808429	chr2:49491466-49491467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546010821	chr2:49491472-49491473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73929013	chr2:49491478-49491479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528597905	chr2:49491482-49491483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35370704	chr2:49491492-49491493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540364687	chr2:49491501-49491502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188538780	chr2:49491533-49491534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192904439	chr2:49491565-49491566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17038551	chr2:49491566-49491567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569987186	chr2:49491630-49491631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556203181	chr2:49491693-49491694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185523358	chr2:49491695-49491696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117201922	chr2:49491716-49491717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10495969	chr2:49491726-49491727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189482196	chr2:49491731-49491732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376550761	chr2:49491743-49491744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49489600-49491200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:49490400-49490800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:49490600-49490800	Enhancers	Right Atrium	heart
4	chr2:49490600-49497600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:49490800-49498400	Weak transcription	Right Atrium	heart
6	chr2:49491200-49491800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:49492000-49493400	Enhancers	HUVEC	blood vessel
8	chr2:49492800-49493200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:49492800-49493400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:49497000-49497200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:49497600-49498000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:49497600-49498600	Enhancers	Fetal Muscle Leg	muscle
13	chr2:49497800-49498200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:49498200-49498600	Enhancers	Pancreas	Pancrea
15	chr2:49498200-49498600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:49498200-49498600	Enhancers	HSMM	muscle
17	chr2:49498400-49498600	Enhancers	Right Atrium	heart
18	chr2:49498400-49498800	Enhancers	Adipose Nuclei	Adipose
19	chr2:49498600-49499600	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:49498800-49500000	Enhancers	Fetal Brain Male	brain
21	chr2:49499600-49499800	Enhancers	Fetal Muscle Leg	muscle
22	chr2:49509600-49510600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:49510600-49513400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:49513000-49513800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:49513200-49513800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:49513400-49514200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:49513400-49520000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:49513800-49514400	Enhancers	HUVEC	blood vessel
29	chr2:49513800-49515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:49513800-49518800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:49514200-49515200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:49514600-49516800	Enhancers	Fetal Brain Female	brain
33	chr2:49514600-49517200	Enhancers	Fetal Heart	heart
34	chr2:49514800-49517200	Enhancers	Brain Angular Gyrus	brain
35	chr2:49515000-49515600	Enhancers	Brain Anterior Caudate	brain
36	chr2:49515000-49515600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:49515000-49516600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:49515000-49517200	Enhancers	Fetal Brain Male	brain
39	chr2:49515000-49517400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:49515200-49515600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:49515200-49516600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:49515200-49517400	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:49515200-49518200	Enhancers	Brain Substantia Nigra	brain
44	chr2:49515400-49516000	Enhancers	Adipose Nuclei	Adipose
45	chr2:49515400-49516400	Enhancers	Brain Germinal Matrix	brain
46	chr2:49515400-49516400	Enhancers	Brain Hippocampus Middle	brain
47	chr2:49515600-49516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:49515600-49516000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:49515600-49516000	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr2:49515600-49516000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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