Variant report

Variant	nsv979330
Chromosome Location	chr2:50747760-50751874
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	chr2:50748617..50751233-chr2:50751871..50754542,2	K562	blood:
2	chr2:50748617..50751233-chr2:50751871..50754542,2	K562	blood:

Extended variants
information (count: 175 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77653927	chr2:50747806-50747807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537795691	chr2:50747811-50747812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532709382	chr2:50747825-50747826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182321463	chr2:50747871-50747872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77793777	chr2:50747899-50747900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79536917	chr2:50747900-50747901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116082351	chr2:50747909-50747910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538810966	chr2:50747929-50747930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553989488	chr2:50747945-50747946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573409534	chr2:50747962-50747963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187341524	chr2:50748059-50748060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552464768	chr2:50748110-50748111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373136786	chr2:50748167-50748168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555525439	chr2:50748185-50748186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573931782	chr2:50748213-50748214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375864942	chr2:50748216-50748217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544586641	chr2:50748239-50748240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377564112	chr2:50748241-50748242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114583745	chr2:50748279-50748280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150840126	chr2:50748329-50748330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545224154	chr2:50748339-50748340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560295630	chr2:50748403-50748404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527423438	chr2:50748417-50748418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549055908	chr2:50748450-50748451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386645985	chr2:50748486-50748487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13016362	chr2:50748487-50748488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549830068	chr2:50748504-50748505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567247669	chr2:50748520-50748521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571595529	chr2:50748557-50748558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190826566	chr2:50748569-50748570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139967241	chr2:50748570-50748571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536000049	chr2:50748589-50748590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565879186	chr2:50748596-50748597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77434409	chr2:50748619-50748620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145602097	chr2:50748669-50748670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573966429	chr2:50748682-50748683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147292829	chr2:50748731-50748732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73930563	chr2:50748732-50748733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577949764	chr2:50748737-50748738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182632409	chr2:50748738-50748739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560359266	chr2:50748741-50748742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117385885	chr2:50748746-50748747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1014667	chr2:50748755-50748756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144895978	chr2:50748759-50748760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531286954	chr2:50748764-50748765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549785166	chr2:50748793-50748794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571254146	chr2:50748798-50748799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532496797	chr2:50748812-50748813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201412676	chr2:50748849-50748850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149023254	chr2:50748868-50748869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50743800-50751400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:50750400-50750600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:50750400-50750600	Enhancers	Brain Germinal Matrix	brain
4	chr2:50750600-50752000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:50750600-50752600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:50751400-50751600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:50751600-50752000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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