Variant report

Variant	nsv829264
Chromosome Location	chr2:50886485-50886985
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	chr2:50884335..50886694-chr2:50887318..50889235,3	K562	blood:
2	chr2:50884111..50885778-chr2:50886770..50888521,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542817989	chr2:50886487-50886488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138371770	chr2:50886587-50886588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77880990	chr2:50886597-50886598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78714023	chr2:50886598-50886599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193052029	chr2:50886603-50886604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550624649	chr2:50886653-50886654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150071573	chr2:50886663-50886664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562576819	chr2:50886726-50886727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552873383	chr2:50886741-50886742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568979410	chr2:50886744-50886745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536041854	chr2:50886828-50886829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555703053	chr2:50886869-50886870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533338130	chr2:50886874-50886875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62142356	chr2:50886885-50886886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34143836	chr2:50886915-50886916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566240502	chr2:50886960-50886961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145404487	chr2:50886975-50886976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35057296	chr2:50886982-50886983	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
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50879800-50888600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:50884400-50886800	Enhancers	NHEK	skin
3	chr2:50885000-50888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:50885200-50888400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:50886200-50888600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:50886400-50890400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:50886800-50890600	Weak transcription	NHEK	skin

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