Variant report

Variant	nsv457418
Chromosome Location	chr2:49514731-49562536
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	chr2:49482441..49483071-chr2:49559200..49560186,2	MCF-7	breast:

Extended variants
information (count: 764 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:764 , 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	rs2217167	chr2:49514731-49514732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139121266	chr2:49514744-49514745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372566230	chr2:49514753-49514754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566473721	chr2:49514762-49514763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149932971	chr2:49514763-49514764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200436449	chr2:49514810-49514811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57811737	chr2:49514811-49514812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181629887	chr2:49514841-49514842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537811812	chr2:49514883-49514884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556594199	chr2:49514917-49514918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578184280	chr2:49514939-49514940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574999353	chr2:49514957-49514958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554337908	chr2:49514958-49514959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572484970	chr2:49514983-49514984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112668625	chr2:49514998-49514999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376042764	chr2:49515022-49515023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543709300	chr2:49515067-49515068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542725291	chr2:49515077-49515078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561003259	chr2:49515158-49515159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184879199	chr2:49515206-49515207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563980222	chr2:49515250-49515251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12997347	chr2:49515263-49515264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562676631	chr2:49515329-49515330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545018225	chr2:49515330-49515331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533235388	chr2:49515352-49515353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551335001	chr2:49515355-49515356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566650030	chr2:49515446-49515447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145079638	chr2:49515450-49515451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564899689	chr2:49515467-49515468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12997593	chr2:49515533-49515534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs374518302	chr2:49515551-49515552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149123592	chr2:49515563-49515564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542935938	chr2:49515582-49515583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1344647	chr2:49515633-49515634	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs114287854	chr2:49515655-49515656	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs143231340	chr2:49515680-49515681	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs553606053	chr2:49515688-49515689	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs147868257	chr2:49515689-49515690	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs141570077	chr2:49515720-49515721	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1344646	chr2:49515776-49515777	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529911899	chr2:49515797-49515798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147050596	chr2:49515813-49515814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138403134	chr2:49515871-49515872	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs141941470	chr2:49515874-49515875	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs576114484	chr2:49515886-49515887	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs543481942	chr2:49515928-49515929	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs535957336	chr2:49515930-49515931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs150257486	chr2:49515946-49515947	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs138932816	chr2:49515951-49515952	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs545291091	chr2:49515958-49515959	Weak transcription Enhancers Flanking Active TSS	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49513400-49520000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:49513800-49515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:49513800-49518800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:49514200-49515200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:49514600-49516800	Enhancers	Fetal Brain Female	brain
6	chr2:49514600-49517200	Enhancers	Fetal Heart	heart
7	chr2:49514800-49517200	Enhancers	Brain Angular Gyrus	brain
8	chr2:49515000-49515600	Enhancers	Brain Anterior Caudate	brain
9	chr2:49515000-49515600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:49515000-49516600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:49515000-49517200	Enhancers	Fetal Brain Male	brain
12	chr2:49515000-49517400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:49515200-49515600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:49515200-49516600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:49515200-49517400	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:49515200-49518200	Enhancers	Brain Substantia Nigra	brain
17	chr2:49515400-49516000	Enhancers	Adipose Nuclei	Adipose
18	chr2:49515400-49516400	Enhancers	Brain Germinal Matrix	brain
19	chr2:49515400-49516400	Enhancers	Brain Hippocampus Middle	brain
20	chr2:49515600-49516000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:49515600-49516000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:49515600-49516000	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr2:49515600-49516000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:49515600-49516800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:49516000-49516400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:49516000-49517600	Enhancers	Brain Anterior Caudate	brain
27	chr2:49516000-49518000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:49516400-49516600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:49516400-49516800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr2:49516600-49517200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:49516800-49517400	Enhancers	Brain Hippocampus Middle	brain
32	chr2:49517200-49523000	Weak transcription	Fetal Brain Male	brain
33	chr2:49518600-49519400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:49518800-49519200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:49522400-49524000	Enhancers	Right Atrium	heart
36	chr2:49522600-49523400	Enhancers	Left Ventricle	heart
37	chr2:49523000-49523400	Enhancers	Colonic Mucosa	Colon
38	chr2:49523000-49524200	Enhancers	Brain Angular Gyrus	brain
39	chr2:49523000-49524200	Enhancers	Fetal Brain Male	brain
40	chr2:49524200-49525800	Weak transcription	Brain Angular Gyrus	brain
41	chr2:49525800-49526000	Enhancers	Brain Angular Gyrus	brain
42	chr2:49533800-49534400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:49533800-49534400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:49533800-49534800	Enhancers	HUVEC	blood vessel
45	chr2:49534000-49534400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr2:49534000-49534600	Enhancers	HepG2	liver
47	chr2:49545000-49545400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:49552600-49553000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:49552800-49553200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:49560600-49561000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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