Variant report

Variant	nsv581790
Chromosome Location	chr2:49153675-49172049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49164670..49166344-chr2:49166473..49169459,2	MCF-7	breast:
2	chr2:49164670..49166344-chr2:49166473..49169459,2	MCF-7	breast:
3	chr2:49163249..49165235-chr2:49165442..49167974,2	K562	blood:
4	chr2:49127535..49130275-chr2:49154381..49157152,2	MCF-7	breast:
5	chr2:49139634..49141993-chr2:49154425..49156573,2	K562	blood:
6	chr2:49163249..49165235-chr2:49165442..49167974,2	K562	blood:

Extended variants
information (count: 744 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:744 , 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	rs6545082	chr2:49153675-49153676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572381917	chr2:49153694-49153695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6545083	chr2:49153719-49153720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs141372675	chr2:49153721-49153722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117176297	chr2:49153723-49153724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542242874	chr2:49153755-49153756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs36023161	chr2:49153787-49153788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531607466	chr2:49153790-49153791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145160941	chr2:49153815-49153816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75168754	chr2:49153817-49153818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565033201	chr2:49153828-49153829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114631850	chr2:49153844-49153845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575515047	chr2:49153887-49153888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543645823	chr2:49153903-49153904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201403688	chr2:49153933-49153934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565798497	chr2:49153938-49153939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373500938	chr2:49154010-49154011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529644429	chr2:49154018-49154019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548135965	chr2:49154037-49154038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536757331	chr2:49154083-49154084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369565217	chr2:49154102-49154103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565045814	chr2:49154109-49154110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142309773	chr2:49154153-49154154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150092304	chr2:49154155-49154156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558862092	chr2:49154192-49154193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138397612	chr2:49154196-49154197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532125199	chr2:49154206-49154207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185738251	chr2:49154257-49154258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201406384	chr2:49154263-49154264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553175001	chr2:49154274-49154275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574840282	chr2:49154278-49154279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576473602	chr2:49154280-49154281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71407534	chr2:49154317-49154318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569221809	chr2:49154318-49154319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575718813	chr2:49154346-49154347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190545336	chr2:49154355-49154356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370304587	chr2:49154358-49154359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539774936	chr2:49154367-49154368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183659968	chr2:49154387-49154388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541256765	chr2:49154388-49154389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557713540	chr2:49154436-49154437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149266902	chr2:49154448-49154449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529770228	chr2:49154481-49154482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189258478	chr2:49154489-49154490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11904455	chr2:49154497-49154498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530467507	chr2:49154502-49154503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192269843	chr2:49154511-49154512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114296535	chr2:49154513-49154514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144515720	chr2:49154542-49154543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12479175	chr2:49154551-49154552	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49153600-49155600	Enhancers	HepG2	liver
2	chr2:49154200-49154600	Enhancers	A549	lung
3	chr2:49155600-49156000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:49156200-49157600	Enhancers	Fetal Brain Male	brain
5	chr2:49156800-49157400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:49156800-49157400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:49157000-49157400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:49157000-49158200	Enhancers	Fetal Brain Female	brain
9	chr2:49157400-49160200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:49161400-49162200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:49164600-49165800	Weak transcription	Fetal Brain Female	brain
12	chr2:49165800-49166000	Enhancers	Fetal Brain Female	brain
13	chr2:49166000-49170400	Weak transcription	Fetal Brain Female	brain
14	chr2:49166400-49166600	Enhancers	Psoas Muscle	Psoas
15	chr2:49166400-49166600	Enhancers	Right Ventricle	heart
16	chr2:49166400-49167000	Enhancers	Left Ventricle	heart
17	chr2:49166600-49167800	Weak transcription	Right Ventricle	heart
18	chr2:49166800-49167800	Weak transcription	Psoas Muscle	Psoas
19	chr2:49167000-49167400	Weak transcription	Left Ventricle	heart
20	chr2:49167400-49168200	Enhancers	Left Ventricle	heart
21	chr2:49167600-49168600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:49167600-49168800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:49167800-49168000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:49167800-49168000	Enhancers	Right Ventricle	heart
25	chr2:49167800-49168200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:49167800-49168200	Enhancers	Adipose Nuclei	Adipose
27	chr2:49167800-49168200	Enhancers	Brain Germinal Matrix	brain
28	chr2:49167800-49168200	Enhancers	Psoas Muscle	Psoas
29	chr2:49167800-49168200	Enhancers	Right Atrium	heart
30	chr2:49168000-49168200	Enhancers	Fetal Lung	lung
31	chr2:49168000-49168800	Weak transcription	Right Ventricle	heart
32	chr2:49168200-49168800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:49168200-49170000	Weak transcription	Left Ventricle	heart
34	chr2:49168200-49170200	Weak transcription	Psoas Muscle	Psoas
35	chr2:49168200-49170400	Weak transcription	Right Atrium	heart
36	chr2:49168200-49176000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:49168400-49169200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:49168400-49169200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:49168800-49169200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:49168800-49169400	Enhancers	Right Ventricle	heart
41	chr2:49168800-49170800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:49169400-49169800	Weak transcription	Right Ventricle	heart
43	chr2:49169800-49170800	Enhancers	Right Ventricle	heart
44	chr2:49170000-49170800	Enhancers	Left Ventricle	heart
45	chr2:49170400-49170600	Enhancers	Right Atrium	heart
46	chr2:49170400-49170800	Enhancers	Fetal Heart	heart
47	chr2:49170400-49171000	Enhancers	Colon Smooth Muscle	Colon
48	chr2:49170400-49171000	Enhancers	Fetal Brain Female	brain
49	chr2:49170400-49171200	Enhancers	Aorta	Aorta
50	chr2:49170400-49171200	Enhancers	Duodenum Smooth Muscle	Duodenum

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