Variant report

Variant	nsv1001809
Chromosome Location	chr2:49604892-49677838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 517 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs817019	chr2:49604892-49604893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185096373	chr2:49604896-49604897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561115669	chr2:49605010-49605011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544919224	chr2:49605012-49605013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554544285	chr2:49605075-49605076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532941940	chr2:49605079-49605080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150217447	chr2:49605089-49605090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549910062	chr2:49605099-49605100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374033370	chr2:49605117-49605118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372881556	chr2:49605190-49605191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182214852	chr2:49610001-49610002	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs117555627	chr2:49610004-49610005	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540918329	chr2:49610007-49610008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs141611095	chr2:49610011-49610012	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371830543	chr2:49610025-49610026	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs142970353	chr2:49610029-49610030	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564662145	chr2:49610032-49610033	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576559451	chr2:49610045-49610046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374069682	chr2:49610068-49610069	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368934413	chr2:49610114-49610115	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs147067546	chr2:49610125-49610126	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558422222	chr2:49610156-49610157	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185950306	chr2:49610172-49610173	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs817027	chr2:49610186-49610187	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs527841834	chr2:49610232-49610233	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540813525	chr2:49610241-49610242	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551509233	chr2:49610278-49610279	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs190926100	chr2:49610280-49610281	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533779519	chr2:49610296-49610297	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548851816	chr2:49610309-49610310	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567254727	chr2:49610327-49610328	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs17038643	chr2:49610339-49610340	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557084208	chr2:49610366-49610367	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs817028	chr2:49610368-49610369	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547497142	chr2:49610390-49610391	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182605147	chr2:49610393-49610394	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs138440031	chr2:49610433-49610434	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375077668	chr2:49610450-49610451	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs17038649	chr2:49610479-49610480	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562341446	chr2:49610481-49610482	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs557410224	chr2:49610524-49610525	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs187343347	chr2:49610576-49610577	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs141047506	chr2:49610605-49610606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577363347	chr2:49610617-49610618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150268505	chr2:49610645-49610646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562348838	chr2:49610667-49610668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190608676	chr2:49610669-49610670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115178127	chr2:49610694-49610695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560230554	chr2:49610722-49610723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559633428	chr2:49610809-49610810	Flanking Active TSS	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
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49604200-49605200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:49610000-49610200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:49610200-49610600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:49610600-49610800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:49610800-49611000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:49611000-49611200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:49627400-49627600	Enhancers	Brain Germinal Matrix	brain
8	chr2:49628800-49629000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:49629200-49630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:49630000-49631600	Enhancers	Brain Germinal Matrix	brain
11	chr2:49630400-49631200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:49630400-49631400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:49630400-49632400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:49630600-49632000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:49630600-49632200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:49630600-49632200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:49630800-49631600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:49630800-49632000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:49630800-49632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:49631200-49631600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:49631400-49631800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:49631600-49632000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:49631800-49632000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:49649200-49649600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:49653600-49654600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:49654000-49654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:49654000-49655000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:49654000-49655200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:49654200-49655000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:49665200-49666000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:49665200-49666400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:49665400-49665600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:49665400-49665800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:49666200-49666400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:49670400-49671600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:49671600-49672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:49672800-49673000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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