Variant report

Variant	nsv1010867
Chromosome Location	chr2:49512442-49541178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 757 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:757 , 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	rs575716671	chr2:49512449-49512450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187263063	chr2:49512464-49512465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539795000	chr2:49512469-49512470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557073790	chr2:49512488-49512489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371338522	chr2:49512515-49512516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192197084	chr2:49512536-49512537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149616674	chr2:49512595-49512596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200812481	chr2:49512618-49512619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111355275	chr2:49512621-49512622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397984538	chr2:49512632-49512633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78612056	chr2:49512634-49512635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376805413	chr2:49512653-49512654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556266440	chr2:49512671-49512672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144365142	chr2:49512699-49512700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541535679	chr2:49512783-49512784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562998978	chr2:49512784-49512785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59489188	chr2:49512897-49512898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368958682	chr2:49512920-49512921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4099587	chr2:49512939-49512940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545055154	chr2:49512961-49512962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564837397	chr2:49512975-49512976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528755658	chr2:49512990-49512991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547216839	chr2:49513050-49513051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568658670	chr2:49513054-49513055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58063071	chr2:49513070-49513071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148809626	chr2:49513105-49513106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551096967	chr2:49513114-49513115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575595681	chr2:49513127-49513128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183087651	chr2:49513129-49513130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187905167	chr2:49513139-49513140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192297488	chr2:49513162-49513163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369044543	chr2:49513166-49513167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142505478	chr2:49513167-49513168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145949920	chr2:49513195-49513196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572249399	chr2:49513272-49513273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13020613	chr2:49513297-49513298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561558352	chr2:49513309-49513310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574297377	chr2:49513313-49513314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369232856	chr2:49513319-49513320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112120180	chr2:49513337-49513338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541598533	chr2:49513341-49513342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556655788	chr2:49513367-49513368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574981779	chr2:49513375-49513376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13020315	chr2:49513396-49513397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528819918	chr2:49513435-49513436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139857222	chr2:49513450-49513451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562320991	chr2:49513459-49513460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545850617	chr2:49513471-49513472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551160427	chr2:49513479-49513480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71401013	chr2:49513492-49513493	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49510600-49513400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:49513000-49513800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:49513200-49513800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:49513400-49514200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:49513400-49520000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:49513800-49514400	Enhancers	HUVEC	blood vessel
7	chr2:49513800-49515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:49513800-49518800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:49514200-49515200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:49514600-49516800	Enhancers	Fetal Brain Female	brain
11	chr2:49514600-49517200	Enhancers	Fetal Heart	heart
12	chr2:49514800-49517200	Enhancers	Brain Angular Gyrus	brain
13	chr2:49515000-49515600	Enhancers	Brain Anterior Caudate	brain
14	chr2:49515000-49515600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:49515000-49516600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:49515000-49517200	Enhancers	Fetal Brain Male	brain
17	chr2:49515000-49517400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:49515200-49515600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:49515200-49516600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:49515200-49517400	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:49515200-49518200	Enhancers	Brain Substantia Nigra	brain
22	chr2:49515400-49516000	Enhancers	Adipose Nuclei	Adipose
23	chr2:49515400-49516400	Enhancers	Brain Germinal Matrix	brain
24	chr2:49515400-49516400	Enhancers	Brain Hippocampus Middle	brain
25	chr2:49515600-49516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:49515600-49516000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:49515600-49516000	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr2:49515600-49516000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:49515600-49516800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:49516000-49516400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:49516000-49517600	Enhancers	Brain Anterior Caudate	brain
32	chr2:49516000-49518000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:49516400-49516600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:49516400-49516800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr2:49516600-49517200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:49516800-49517400	Enhancers	Brain Hippocampus Middle	brain
37	chr2:49517200-49523000	Weak transcription	Fetal Brain Male	brain
38	chr2:49518600-49519400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:49518800-49519200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:49522400-49524000	Enhancers	Right Atrium	heart
41	chr2:49522600-49523400	Enhancers	Left Ventricle	heart
42	chr2:49523000-49523400	Enhancers	Colonic Mucosa	Colon
43	chr2:49523000-49524200	Enhancers	Brain Angular Gyrus	brain
44	chr2:49523000-49524200	Enhancers	Fetal Brain Male	brain
45	chr2:49524200-49525800	Weak transcription	Brain Angular Gyrus	brain
46	chr2:49525800-49526000	Enhancers	Brain Angular Gyrus	brain
47	chr2:49533800-49534400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:49533800-49534400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:49533800-49534800	Enhancers	HUVEC	blood vessel
50	chr2:49534000-49534400	Enhancers	Pancreatic Islets	Pancreatic Islet

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