Variant report

Variant	nsv1005884
Chromosome Location	chr2:50805795-50820091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr2:50816209-50816475	GM12878	blood:	n/a	n/a
2	CEBPB	chr2:50806988-50807292	HepG2	liver:	n/a	chr2:50807143-50807154
3	CEBPB	chr2:50806995-50807315	IMR90	lung:	n/a	chr2:50807143-50807154
4	CEBPB	chr2:50807093-50807192	A549	lung:	n/a	chr2:50807143-50807154
5	CTCF	chr2:50814499-50814600	Fibrobl	skin:	n/a	n/a
6	CTCF	chr2:50813020-50813170	A549	lung:	n/a	n/a
7	CTCF	chr2:50806860-50807010	HepG2	liver:	n/a	n/a
8	FOS	chr2:50812885-50813055	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:50812781-50813025	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr2:50812798-50812987	MCF10A-Er-Src	breast:	n/a	n/a
11	IRF3	chr2:50806021-50806043	GM12878	blood:	n/a	n/a
12	MAFK	chr2:50817174-50817337	HepG2	liver:	n/a	n/a
13	MAFK	chr2:50817212-50817378	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:50814228-50814445	A549	lung:	n/a	n/a
15	POLR2A	chr2:50809463-50809592	A549	lung:	n/a	n/a
16	POLR2A	chr2:50818797-50818979	A549	lung:	n/a	n/a
17	POLR2A	chr2:50814275-50814463	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:50810694-50810777	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr2:50808784-50808984	MCF10A-Er-Src	breast:	n/a	n/a
20	SPI1	chr2:50816286-50816400	GM12878	blood:	n/a	n/a
21	STAT3	chr2:50810598-50810798	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000230327	TF binding region

Extended variants
information (count: 704 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546682926	chr2:50805795-50805796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561674698	chr2:50805853-50805854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149771133	chr2:50805868-50805869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535163712	chr2:50805940-50805941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570929353	chr2:50805978-50805979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374131871	chr2:50806011-50806012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550937750	chr2:50806014-50806015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569123717	chr2:50806028-50806029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539289361	chr2:50806045-50806046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555172044	chr2:50806086-50806087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191635649	chr2:50806132-50806133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375117128	chr2:50806133-50806134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183793333	chr2:50806160-50806161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535129050	chr2:50806239-50806240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145777394	chr2:50806290-50806291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574539656	chr2:50806321-50806322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535447932	chr2:50806335-50806336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557268799	chr2:50806338-50806339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575875875	chr2:50806378-50806379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537769162	chr2:50806398-50806399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148951667	chr2:50806401-50806402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145816304	chr2:50806407-50806408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146598977	chr2:50806468-50806469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187441116	chr2:50806487-50806488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368851683	chr2:50806507-50806508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199875686	chr2:50806540-50806541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550580280	chr2:50806541-50806542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372266275	chr2:50806552-50806553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533277726	chr2:50806553-50806554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577854121	chr2:50806595-50806596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540660461	chr2:50806598-50806599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551347437	chr2:50806612-50806613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114970323	chr2:50806642-50806643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527480387	chr2:50806699-50806700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115419055	chr2:50806702-50806703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568203187	chr2:50806714-50806715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547822761	chr2:50806729-50806730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543115160	chr2:50806788-50806789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141429064	chr2:50806800-50806801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577577423	chr2:50806802-50806803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563049682	chr2:50806809-50806810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557349456	chr2:50806831-50806832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569126019	chr2:50806839-50806840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540132725	chr2:50806852-50806853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369614419	chr2:50806885-50806886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145139603	chr2:50806889-50806890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148373634	chr2:50806911-50806912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536780605	chr2:50806925-50806926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192683099	chr2:50806957-50806958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184872700	chr2:50806959-50806960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50802600-50832400	Weak transcription	Fetal Brain Female	brain
2	chr2:50810800-50813600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:50812400-50827200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:50814200-50814400	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
5	chr2:50815000-50818600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:50815600-50818200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:50817600-50817800	Enhancers	Brain Hippocampus Middle	brain
8	chr2:50818000-50818600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:50818000-50820000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:50818200-50818400	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:50818200-50819000	Enhancers	Brain Substantia Nigra	brain
12	chr2:50818200-50820600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:50818400-50819400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:50818400-50819800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:50818600-50819000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:50818600-50819200	Genic enhancers	Brain Germinal Matrix	brain
17	chr2:50819000-50819800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:50819000-50819800	Enhancers	Brain Anterior Caudate	brain
19	chr2:50819200-50820000	Enhancers	Brain Germinal Matrix	brain
20	chr2:50819400-50819800	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:50820000-50833400	Weak transcription	Brain Germinal Matrix	brain

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