Variant report

Variant	nsv581926
Chromosome Location	chr2:52383332-52449721
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	chr2:52444137..52446093-chr2:52447228..52448981,2	K562	blood:
2	chr2:52444137..52446093-chr2:52447228..52448981,2	K562	blood:

Extended variants
information (count: 783 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574241673	chr2:52385216-52385217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543338603	chr2:52385256-52385257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191239280	chr2:52385295-52385296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575216459	chr2:52385326-52385327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180754662	chr2:52385347-52385348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185080339	chr2:52385356-52385357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551360131	chr2:52385368-52385369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190734074	chr2:52385376-52385377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546388035	chr2:52385388-52385389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559957949	chr2:52385389-52385390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567455370	chr2:52385394-52385395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368871532	chr2:52385404-52385405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549290558	chr2:52385414-52385415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114950098	chr2:52385425-52385426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115940773	chr2:52385458-52385459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538065805	chr2:52385461-52385462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559603040	chr2:52385467-52385468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550022599	chr2:52385477-52385478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7349359	chr2:52385489-52385490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369826612	chr2:52385541-52385542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571763729	chr2:52385577-52385578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183202653	chr2:52385580-52385581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554389681	chr2:52385584-52385585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369870216	chr2:52385585-52385586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574204720	chr2:52385641-52385642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536515959	chr2:52385657-52385658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556832126	chr2:52385658-52385659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571421691	chr2:52385696-52385697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115640387	chr2:52385697-52385698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149768274	chr2:52385714-52385715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374277908	chr2:52385745-52385746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12476761	chr2:52385756-52385757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370449771	chr2:52385778-52385779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145777413	chr2:52385840-52385841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77260916	chr2:52385883-52385884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560071207	chr2:52385951-52385952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529109933	chr2:52385962-52385963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35886094	chr2:52385964-52385965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372607772	chr2:52386006-52386007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11675869	chr2:52386032-52386033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542513512	chr2:52386037-52386038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1922201	chr2:52386043-52386044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187937400	chr2:52386077-52386078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1922202	chr2:52386104-52386105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148954946	chr2:52386110-52386111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12477631	chr2:52386144-52386145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191741897	chr2:52386158-52386159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117203182	chr2:52386166-52386167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375924649	chr2:52386175-52386176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368539778	chr2:52386180-52386181	Weak transcription	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52385200-52385800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:52385800-52389800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:52389200-52389600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:52389200-52389600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:52389800-52390000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:52408000-52408400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:52408000-52408400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:52412800-52413000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:52419200-52419400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:52419200-52421200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:52419200-52421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:52419400-52420400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:52420400-52421600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:52427600-52427800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:52434800-52435000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:52435000-52435200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:52435200-52435400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:52435400-52435600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:52435600-52435800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:52436800-52437200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:52436800-52438600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:52437400-52438000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:52442000-52443800	Enhancers	Fetal Heart	heart
24	chr2:52443800-52448600	Weak transcription	Fetal Heart	heart
25	chr2:52448600-52449800	Enhancers	Fetal Heart	heart
26	chr2:52449400-52449800	Enhancers	NHDF-Ad	bronchial
27	chr2:52449600-52450000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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