Variant report

Variant	nsv963873
Chromosome Location	chr2:49510595-49524121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 691 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555628688	chr2:49510600-49510601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144945304	chr2:49510605-49510606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186222956	chr2:49510635-49510636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189128404	chr2:49510697-49510698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566269458	chr2:49510703-49510704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117156919	chr2:49510727-49510728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573838118	chr2:49510733-49510734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76016032	chr2:49510738-49510739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576237719	chr2:49510757-49510758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543562924	chr2:49510771-49510772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558647326	chr2:49510772-49510773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181833504	chr2:49510817-49510818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186446731	chr2:49510861-49510862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559695896	chr2:49510875-49510876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13000769	chr2:49510914-49510915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542918275	chr2:49510930-49510931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561122098	chr2:49510940-49510941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531560653	chr2:49510953-49510954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549965598	chr2:49510988-49510989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571396793	chr2:49510989-49510990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532210880	chr2:49510995-49510996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547122819	chr2:49511059-49511060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190623810	chr2:49511150-49511151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535830576	chr2:49511201-49511202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13005906	chr2:49511228-49511229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183012558	chr2:49511278-49511279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537282206	chr2:49511362-49511363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13006820	chr2:49511369-49511370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577314931	chr2:49511380-49511381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541507158	chr2:49511387-49511388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199502592	chr2:49511427-49511428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113380928	chr2:49511450-49511451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113492333	chr2:49511485-49511486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553152586	chr2:49511514-49511515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574781845	chr2:49511515-49511516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11887895	chr2:49511522-49511523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561185323	chr2:49511552-49511553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531618729	chr2:49511566-49511567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146734927	chr2:49511577-49511578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565084706	chr2:49511588-49511589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532147454	chr2:49511592-49511593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547477183	chr2:49511593-49511594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565591595	chr2:49511613-49511614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529714630	chr2:49511656-49511657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7426386	chr2:49511709-49511710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570042727	chr2:49511735-49511736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13007508	chr2:49511742-49511743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567811358	chr2:49511799-49511800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535119525	chr2:49511807-49511808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552396438	chr2:49511853-49511854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49509600-49510600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:49510600-49513400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:49513000-49513800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:49513200-49513800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:49513400-49514200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:49513400-49520000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:49513800-49514400	Enhancers	HUVEC	blood vessel
8	chr2:49513800-49515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:49513800-49518800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:49514200-49515200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:49514600-49516800	Enhancers	Fetal Brain Female	brain
12	chr2:49514600-49517200	Enhancers	Fetal Heart	heart
13	chr2:49514800-49517200	Enhancers	Brain Angular Gyrus	brain
14	chr2:49515000-49515600	Enhancers	Brain Anterior Caudate	brain
15	chr2:49515000-49515600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:49515000-49516600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:49515000-49517200	Enhancers	Fetal Brain Male	brain
18	chr2:49515000-49517400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:49515200-49515600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:49515200-49516600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:49515200-49517400	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:49515200-49518200	Enhancers	Brain Substantia Nigra	brain
23	chr2:49515400-49516000	Enhancers	Adipose Nuclei	Adipose
24	chr2:49515400-49516400	Enhancers	Brain Germinal Matrix	brain
25	chr2:49515400-49516400	Enhancers	Brain Hippocampus Middle	brain
26	chr2:49515600-49516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:49515600-49516000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:49515600-49516000	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr2:49515600-49516000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr2:49515600-49516800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:49516000-49516400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:49516000-49517600	Enhancers	Brain Anterior Caudate	brain
33	chr2:49516000-49518000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:49516400-49516600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:49516400-49516800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr2:49516600-49517200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:49516800-49517400	Enhancers	Brain Hippocampus Middle	brain
38	chr2:49517200-49523000	Weak transcription	Fetal Brain Male	brain
39	chr2:49518600-49519400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:49518800-49519200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:49522400-49524000	Enhancers	Right Atrium	heart
42	chr2:49522600-49523400	Enhancers	Left Ventricle	heart
43	chr2:49523000-49523400	Enhancers	Colonic Mucosa	Colon
44	chr2:49523000-49524200	Enhancers	Brain Angular Gyrus	brain
45	chr2:49523000-49524200	Enhancers	Fetal Brain Male	brain

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