Variant report

Variant	nsv1014171
Chromosome Location	chr2:49392491-49421571
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	chr2:49394074..49396341-chr2:49397153..49398810,2	K562	blood:
2	chr2:49394074..49396341-chr2:49397153..49398810,2	K562	blood:

Extended variants
information (count: 819 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13427781	chr2:49392491-49392492	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144481188	chr2:49392496-49392497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532754534	chr2:49392519-49392520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551699987	chr2:49392572-49392573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61121038	chr2:49392597-49392598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531314314	chr2:49392619-49392620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79974124	chr2:49392660-49392661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549515645	chr2:49392700-49392701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200203891	chr2:49392704-49392705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567670862	chr2:49392738-49392739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538369276	chr2:49392747-49392748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556679269	chr2:49392763-49392764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139569370	chr2:49392777-49392778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556348388	chr2:49392787-49392788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193056471	chr2:49392823-49392824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145186495	chr2:49392869-49392870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551235095	chr2:49392883-49392884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540066703	chr2:49392900-49392901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571699688	chr2:49392910-49392911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573481915	chr2:49392946-49392947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147627001	chr2:49392969-49392970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543940092	chr2:49392997-49392998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370786612	chr2:49393013-49393014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142262955	chr2:49393041-49393042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551311189	chr2:49393043-49393044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142237810	chr2:49393081-49393082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151241635	chr2:49393082-49393083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571411337	chr2:49393140-49393141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528731417	chr2:49393165-49393166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143574920	chr2:49393166-49393167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547558981	chr2:49393190-49393191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17038395	chr2:49393208-49393209	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140430427	chr2:49393210-49393211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1394206	chr2:49393268-49393269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550344158	chr2:49393332-49393333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571721436	chr2:49393380-49393381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6761392	chr2:49393382-49393383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs554100564	chr2:49393394-49393395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566671574	chr2:49393415-49393416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76083872	chr2:49393426-49393427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185817579	chr2:49393457-49393458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573543364	chr2:49393481-49393482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544000429	chr2:49393484-49393485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538786571	chr2:49393489-49393490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555846168	chr2:49393496-49393497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114686057	chr2:49393501-49393502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150407544	chr2:49393514-49393515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373244514	chr2:49393533-49393534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72881720	chr2:49393554-49393555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138280782	chr2:49393558-49393559	Enhancers	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49391200-49392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:49391600-49394000	Enhancers	HSMMtube	muscle
3	chr2:49391800-49392600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:49392000-49393200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:49392200-49392600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:49392200-49392800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:49392200-49393200	Enhancers	Fetal Brain Male	brain
8	chr2:49392200-49393800	Enhancers	Fetal Muscle Leg	muscle
9	chr2:49392400-49393000	Enhancers	Fetal Lung	lung
10	chr2:49392400-49393000	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:49392400-49394000	Enhancers	Ovary	ovary
12	chr2:49392800-49393000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:49393800-49394400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:49394400-49394600	Enhancers	Fetal Muscle Leg	muscle
15	chr2:49397600-49397800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr2:49398000-49398600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:49400800-49401600	Enhancers	Fetal Brain Male	brain
18	chr2:49403000-49403600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:49403200-49406000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:49403400-49404200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr2:49403400-49404400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:49403400-49404800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:49404000-49404800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:49404800-49405400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:49405400-49405600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:49405600-49405800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:49405800-49406000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr2:49409800-49437200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:49416000-49416400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:49416000-49416400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:49416200-49416600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:49416400-49418800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:49416600-49417400	Enhancers	HSMMtube	muscle
34	chr2:49416800-49417200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:49416800-49417800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:49418800-49419000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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