Variant report

Variant	nsv874103
Chromosome Location	chr2:52302602-52339683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:52321532..52323280-chr2:52325089..52327796,2	K562	blood:
2	chr2:52321532..52323280-chr2:52325089..52327796,2	K562	blood:
3	chr2:52335533..52337278-chr2:52346386..52348387,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-11	chr2:52304140-52304335	NONHSAT070666
2	lnc-CHAC2-11	chr2:52302622-52302775	NONHSAT070666

Extended variants
information (count: 315 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570048003	chr2:52302628-52302629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs112858013	chr2:52302637-52302638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs398104305	chr2:52302638-52302639	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs371096197	chr2:52302644-52302645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs76885656	chr2:52302661-52302662	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs552506310	chr2:52302714-52302715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs570720518	chr2:52302715-52302716	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs192135761	chr2:52302768-52302769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs548938640	chr2:52304200-52304201	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs568690768	chr2:52304206-52304207	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs201551312	chr2:52304213-52304214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs12470408	chr2:52304243-52304244	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557630183	chr2:52304252-52304253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs543256682	chr2:52304308-52304309	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs539991521	chr2:52304318-52304319	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs557978327	chr2:52304329-52304330	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs549866227	chr2:52306212-52306213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571611147	chr2:52306219-52306220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72885928	chr2:52306220-52306221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547445174	chr2:52306247-52306248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182339546	chr2:52306272-52306273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187709872	chr2:52306275-52306276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374364805	chr2:52306291-52306292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76053679	chr2:52306292-52306293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537193775	chr2:52306301-52306302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192627997	chr2:52306333-52306334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576827597	chr2:52306366-52306367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541051728	chr2:52306376-52306377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559072743	chr2:52306378-52306379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148423786	chr2:52306420-52306421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10168150	chr2:52306422-52306423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12472698	chr2:52306431-52306432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561200349	chr2:52306435-52306436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531798128	chr2:52306436-52306437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199686237	chr2:52306486-52306487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549929326	chr2:52306501-52306502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145192578	chr2:52306507-52306508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532476945	chr2:52306523-52306524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567871937	chr2:52306544-52306545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368812752	chr2:52306586-52306587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79442045	chr2:52306587-52306588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188402127	chr2:52306635-52306636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548504225	chr2:52306704-52306705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192815550	chr2:52306710-52306711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10204626	chr2:52306727-52306728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559440959	chr2:52306729-52306730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184735885	chr2:52306731-52306732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188828606	chr2:52306748-52306749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534412539	chr2:52306801-52306802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552983496	chr2:52306808-52306809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52306200-52306400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:52306400-52310000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:52307200-52308200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:52307600-52308000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:52307600-52308200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:52307800-52308200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:52310000-52310200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:52310200-52310600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:52310600-52311000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:52334400-52335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:52335000-52336000	Enhancers	HMEC	breast
12	chr2:52335600-52336000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:52339000-52341000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:52339000-52341400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:52339400-52340600	Enhancers	Osteobl	bone

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