Variant report

Variant	nsv829208
Chromosome Location	chr2:49250050-49260907
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	chr2:49209751..49211732-chr2:49248932..49250816,2	K562	blood:
2	chr2:49260442..49262914-chr2:49263129..49265285,2	K562	blood:

Extended variants
information (count: 457 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529882535	chr2:49250054-49250055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548343161	chr2:49250055-49250056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569432498	chr2:49250056-49250057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182393088	chr2:49250067-49250068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113416996	chr2:49250071-49250072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377194571	chr2:49250073-49250074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77432855	chr2:49250146-49250147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72877811	chr2:49250163-49250164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551601595	chr2:49250171-49250172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72827267	chr2:49250184-49250185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116743339	chr2:49250198-49250199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148058297	chr2:49250233-49250234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542081526	chr2:49250258-49250259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371332407	chr2:49250305-49250306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115725629	chr2:49250328-49250329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552470218	chr2:49250345-49250346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575819912	chr2:49250349-49250350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77793542	chr2:49250366-49250367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564568253	chr2:49250384-49250385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72827268	chr2:49250419-49250420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150012914	chr2:49250463-49250464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559417262	chr2:49250537-49250538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529972178	chr2:49250544-49250545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548098406	chr2:49250546-49250547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113155106	chr2:49250576-49250577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72827270	chr2:49250623-49250624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140155484	chr2:49250638-49250639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190936902	chr2:49250655-49250656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570200375	chr2:49250658-49250659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553257670	chr2:49250719-49250720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113271420	chr2:49250723-49250724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536984279	chr2:49250740-49250741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546551466	chr2:49250799-49250800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568676666	chr2:49250819-49250820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12713033	chr2:49250821-49250822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs12713034	chr2:49250971-49250972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs575959286	chr2:49250988-49250989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72827271	chr2:49250994-49250995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74654739	chr2:49251056-49251057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573353895	chr2:49251061-49251062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540288655	chr2:49251067-49251068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573049088	chr2:49251081-49251082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562078558	chr2:49251117-49251118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556852079	chr2:49251122-49251123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574653104	chr2:49251165-49251166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182449828	chr2:49251169-49251170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143892102	chr2:49251199-49251200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575419911	chr2:49251226-49251227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530656483	chr2:49251241-49251242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146888963	chr2:49251250-49251251	Weak transcription	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 cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49245600-49256600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:49249000-49253800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:49251800-49252400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:49251800-49252400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:49251800-49252400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:49252000-49253200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:49252400-49256400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:49253200-49256600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:49254000-49255000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:49255200-49255400	Enhancers	Brain Germinal Matrix	brain
11	chr2:49255200-49255400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:49255400-49256400	Weak transcription	Brain Germinal Matrix	brain
13	chr2:49256000-49257200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:49256400-49257000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:49256400-49261600	Enhancers	Brain Germinal Matrix	brain
16	chr2:49256600-49256800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:49256600-49257200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:49256800-49257400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:49257000-49260400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:49259200-49261200	Enhancers	Fetal Brain Male	brain
21	chr2:49260200-49260400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:49260400-49260600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:49260400-49261000	Enhancers	Fetal Brain Female	brain

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