Variant report

Variant	nsv874029
Chromosome Location	chr2:49946543-50048977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49987705..49990073-chr2:50256678..50259583,2	K562	blood:
2	chr2:49997762..49998692-chr2:50371136..50371712,4	MCF-7	breast:
3	chr2:49946532..49948870-chr2:49954270..49956341,2	K562	blood:
4	chr2:49946532..49948870-chr2:49954270..49956341,2	K562	blood:
5	chr2:49997735..49998660-chr2:50371421..50371995,2	MCF-7	breast:
6	chr2:50026911..50029881-chr2:50163346..50164873,2	K562	blood:
7	chr2:49997752..49998563-chr2:50629285..50629956,2	MCF-7	breast:

Extended variants
information (count: 1498 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1498 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1159705	chr2:49946543-49946544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540575286	chr2:49946555-49946556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75901673	chr2:49946565-49946566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76142294	chr2:49946584-49946585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541890215	chr2:49946606-49946607	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376733634	chr2:49946776-49946777	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537056044	chr2:49946807-49946808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563375220	chr2:49946840-49946841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375760453	chr2:49946849-49946850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370097565	chr2:49946899-49946900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373560587	chr2:49946929-49946930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143282230	chr2:49946997-49946998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369138153	chr2:49946998-49946999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369052143	chr2:49947000-49947001	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs139641057	chr2:49947011-49947012	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs376950286	chr2:49947035-49947036	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs17039194	chr2:49947041-49947042	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148730211	chr2:49947064-49947065	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182282106	chr2:49947090-49947091	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566060432	chr2:49947104-49947105	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs556745176	chr2:49947119-49947120	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs570581539	chr2:49947138-49947139	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs187328319	chr2:49947159-49947160	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4504036	chr2:49947165-49947166	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553187528	chr2:49947166-49947167	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190975218	chr2:49947204-49947205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75937220	chr2:49947217-49947218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566543064	chr2:49947231-49947232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372781500	chr2:49947257-49947258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144399227	chr2:49947304-49947305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1401323	chr2:49947388-49947389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535325291	chr2:49947401-49947402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552725016	chr2:49947436-49947437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17039201	chr2:49947538-49947539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541575367	chr2:49947571-49947572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557053533	chr2:49947579-49947580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575359793	chr2:49947615-49947616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575508736	chr2:49947661-49947662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545981112	chr2:49947693-49947694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564262122	chr2:49947757-49947758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182749529	chr2:49947797-49947798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540497984	chr2:49947799-49947800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60429033	chr2:49947824-49947825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559521598	chr2:49947825-49947826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146619163	chr2:49947828-49947829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548412762	chr2:49947860-49947861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563393662	chr2:49947874-49947875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531016892	chr2:49947879-49947880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544611436	chr2:49947888-49947889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552402683	chr2:49947896-49947897	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49945200-49947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:49946200-49946600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:49946400-49947200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:49946600-49946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:49946800-49947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:49947000-49947200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:49947200-49948000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:49961400-49962200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:49961600-49962200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:49961600-49963400	Enhancers	Dnd41	blood
11	chr2:49963400-49964400	Weak transcription	Dnd41	blood
12	chr2:49964400-49965200	Enhancers	Dnd41	blood
13	chr2:49965200-49966400	Weak transcription	Dnd41	blood
14	chr2:49966400-49966600	Enhancers	Dnd41	blood
15	chr2:49976600-49976800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:49976800-49977000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:49976800-49980200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:49977000-49978200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:49978200-49981600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:49980000-49981000	Enhancers	HUVEC	blood vessel
21	chr2:49980200-49981600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:49980600-49980800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:49980600-49981200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:49980600-49981600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:49980800-49981000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:49981000-49981800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:49981600-49982800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:49981800-49982200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:49983000-49983200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:49998000-49998600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:49998200-49998600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:49998200-49998600	Active TSS	Brain Substantia Nigra	brain
33	chr2:50007800-50008800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:50022400-50022600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:50022400-50024200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:50023200-50024200	Enhancers	Dnd41	blood
37	chr2:50023400-50023600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:50025200-50025400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:50025400-50028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:50027800-50029800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:50028200-50028800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:50028800-50029200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:50028800-50029600	Enhancers	Fetal Kidney	kidney
44	chr2:50029400-50029800	Enhancers	Fetal Lung	lung
45	chr2:50030200-50032600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:50032200-50032800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:50032800-50034400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:50034400-50035600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:50034400-50035800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:50035000-50035200	Enhancers	Fetal Heart	heart

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