Variant report

Variant	nsv581796
Chromosome Location	chr2:49498006-49522163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 720 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9636436	chr2:49498006-49498007	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs567052303	chr2:49498033-49498034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374158836	chr2:49498048-49498049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555908122	chr2:49498105-49498106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192700792	chr2:49498126-49498127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184550283	chr2:49498173-49498174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377284804	chr2:49498189-49498190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556488412	chr2:49498279-49498280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189767061	chr2:49498294-49498295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546056991	chr2:49498296-49498297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574268121	chr2:49498304-49498305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564171555	chr2:49498305-49498306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34574517	chr2:49498309-49498310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191898933	chr2:49498315-49498316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72833314	chr2:49498390-49498391	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561448593	chr2:49498401-49498402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60982323	chr2:49498466-49498467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550318544	chr2:49498483-49498484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75237696	chr2:49498494-49498495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141120227	chr2:49498495-49498496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552043164	chr2:49498515-49498516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569723767	chr2:49498576-49498577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567129836	chr2:49498582-49498583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184251679	chr2:49498589-49498590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555969356	chr2:49498613-49498614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530898960	chr2:49498619-49498620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146927168	chr2:49498623-49498624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538321406	chr2:49498630-49498631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556309458	chr2:49498658-49498659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577967668	chr2:49498724-49498725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538451312	chr2:49498750-49498751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80237657	chr2:49498753-49498754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545819027	chr2:49498778-49498779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558039179	chr2:49498819-49498820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531296019	chr2:49498822-49498823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367852983	chr2:49498852-49498853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572752532	chr2:49498859-49498860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113481149	chr2:49498860-49498861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112982188	chr2:49498861-49498862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111583141	chr2:49498862-49498863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77652740	chr2:49498866-49498867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373667242	chr2:49498880-49498881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368965151	chr2:49498882-49498883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370156664	chr2:49498883-49498884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71407556	chr2:49498886-49498887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377287734	chr2:49498890-49498891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200677173	chr2:49498891-49498892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201774718	chr2:49498893-49498894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200021351	chr2:49498894-49498895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200709773	chr2:49498899-49498900	Enhancers 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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49490800-49498400	Weak transcription	Right Atrium	heart
2	chr2:49497600-49498600	Enhancers	Fetal Muscle Leg	muscle
3	chr2:49497800-49498200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:49498200-49498600	Enhancers	Pancreas	Pancrea
5	chr2:49498200-49498600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:49498200-49498600	Enhancers	HSMM	muscle
7	chr2:49498400-49498600	Enhancers	Right Atrium	heart
8	chr2:49498400-49498800	Enhancers	Adipose Nuclei	Adipose
9	chr2:49498600-49499600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:49498800-49500000	Enhancers	Fetal Brain Male	brain
11	chr2:49499600-49499800	Enhancers	Fetal Muscle Leg	muscle
12	chr2:49509600-49510600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:49510600-49513400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:49513000-49513800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:49513200-49513800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:49513400-49514200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:49513400-49520000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:49513800-49514400	Enhancers	HUVEC	blood vessel
19	chr2:49513800-49515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:49513800-49518800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:49514200-49515200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:49514600-49516800	Enhancers	Fetal Brain Female	brain
23	chr2:49514600-49517200	Enhancers	Fetal Heart	heart
24	chr2:49514800-49517200	Enhancers	Brain Angular Gyrus	brain
25	chr2:49515000-49515600	Enhancers	Brain Anterior Caudate	brain
26	chr2:49515000-49515600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:49515000-49516600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:49515000-49517200	Enhancers	Fetal Brain Male	brain
29	chr2:49515000-49517400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:49515200-49515600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:49515200-49516600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:49515200-49517400	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:49515200-49518200	Enhancers	Brain Substantia Nigra	brain
34	chr2:49515400-49516000	Enhancers	Adipose Nuclei	Adipose
35	chr2:49515400-49516400	Enhancers	Brain Germinal Matrix	brain
36	chr2:49515400-49516400	Enhancers	Brain Hippocampus Middle	brain
37	chr2:49515600-49516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:49515600-49516000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:49515600-49516000	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr2:49515600-49516000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr2:49515600-49516800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:49516000-49516400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:49516000-49517600	Enhancers	Brain Anterior Caudate	brain
44	chr2:49516000-49518000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:49516400-49516600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:49516400-49516800	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr2:49516600-49517200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:49516800-49517400	Enhancers	Brain Hippocampus Middle	brain
49	chr2:49517200-49523000	Weak transcription	Fetal Brain Male	brain
50	chr2:49518600-49519400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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