Variant report

Variant	nsv522402
Chromosome Location	chr2:49393382-49429109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49394074..49396341-chr2:49397153..49398810,2	K562	blood:
2	chr2:49394074..49396341-chr2:49397153..49398810,2	K562	blood:
3	chr2:49425509..49426338-chr3:115937869..115938784,2	MCF-7	breast:

Extended variants
information (count: 1120 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1120 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6761392	chr2:49393382-49393383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554100564	chr2:49393394-49393395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566671574	chr2:49393415-49393416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76083872	chr2:49393426-49393427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185817579	chr2:49393457-49393458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573543364	chr2:49393481-49393482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544000429	chr2:49393484-49393485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538786571	chr2:49393489-49393490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555846168	chr2:49393496-49393497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114686057	chr2:49393501-49393502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150407544	chr2:49393514-49393515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373244514	chr2:49393533-49393534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72881720	chr2:49393554-49393555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138280782	chr2:49393558-49393559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187954117	chr2:49393581-49393582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561563009	chr2:49393595-49393596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531944270	chr2:49393609-49393610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375441873	chr2:49393610-49393611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141301136	chr2:49393614-49393615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191313160	chr2:49393655-49393656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17038399	chr2:49393664-49393665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556609695	chr2:49393677-49393678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183831756	chr2:49393691-49393692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138984897	chr2:49393701-49393702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149427154	chr2:49393702-49393703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555290923	chr2:49393709-49393710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567179082	chr2:49393737-49393738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144854993	chr2:49393748-49393749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555907516	chr2:49393791-49393792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148173001	chr2:49393824-49393825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545117320	chr2:49393898-49393899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553576126	chr2:49393914-49393915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572054135	chr2:49393946-49393947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80157508	chr2:49393986-49393987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368771617	chr2:49393993-49393994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561576965	chr2:49394018-49394019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551572040	chr2:49394040-49394041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200886326	chr2:49394041-49394042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188642251	chr2:49394042-49394043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181598118	chr2:49394138-49394139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565503909	chr2:49394162-49394163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545479448	chr2:49394211-49394212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73928533	chr2:49394212-49394213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547913170	chr2:49394216-49394217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566040773	chr2:49394270-49394271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530111810	chr2:49394280-49394281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548140333	chr2:49394295-49394296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73928534	chr2:49394306-49394307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141129002	chr2:49394327-49394328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185087078	chr2:49394363-49394364	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:27 , 50 per page) page: 1

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

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