Variant report

Variant	esv3427194
Chromosome Location	chr2:50815898-50817896
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	MAFK	chr2:50817174-50817337	HepG2	liver:	n/a	n/a
3	MAFK	chr2:50817212-50817378	HepG2	liver:	n/a	n/a
4	SPI1	chr2:50816286-50816400	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000230327	TF binding region

Extended variants
information (count: 128 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541921730	chr2:50815898-50815899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187162688	chr2:50815904-50815905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553541647	chr2:50815905-50815906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191547442	chr2:50815907-50815908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184095275	chr2:50815910-50815911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186998739	chr2:50815913-50815914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191126448	chr2:50815925-50815926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182103053	chr2:50815928-50815929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186571323	chr2:50815931-50815932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574888398	chr2:50815944-50815945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2216787	chr2:50815955-50815956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552541230	chr2:50815961-50815962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563220286	chr2:50816033-50816034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530547783	chr2:50816050-50816051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10179269	chr2:50816062-50816063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191860269	chr2:50816091-50816092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112906484	chr2:50816113-50816114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528403392	chr2:50816120-50816121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534769295	chr2:50816144-50816145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182485551	chr2:50816150-50816151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188688586	chr2:50816167-50816168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62142296	chr2:50816174-50816175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192807521	chr2:50816175-50816176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185772613	chr2:50816179-50816180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563407027	chr2:50816202-50816203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558546249	chr2:50816219-50816220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60305368	chr2:50816248-50816249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190248576	chr2:50816252-50816253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192471962	chr2:50816309-50816310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575011452	chr2:50816312-50816313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183895783	chr2:50816318-50816319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367694125	chr2:50816327-50816328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113490746	chr2:50816333-50816334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377269514	chr2:50816348-50816349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574656121	chr2:50816359-50816360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575425364	chr2:50816360-50816361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79864516	chr2:50816369-50816370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112430443	chr2:50816370-50816371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371618890	chr2:50816395-50816396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188279156	chr2:50816404-50816405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564072222	chr2:50816439-50816440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181413833	chr2:50816440-50816441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369297939	chr2:50816443-50816444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186198401	chr2:50816452-50816453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373268350	chr2:50816485-50816486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561821869	chr2:50816491-50816492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529115915	chr2:50816504-50816505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370255449	chr2:50816523-50816524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190261395	chr2:50816548-50816549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75158339	chr2:50816565-50816566	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50802600-50832400	Weak transcription	Fetal Brain Female	brain
2	chr2:50812400-50827200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:50815000-50818600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:50815600-50818200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:50817600-50817800	Enhancers	Brain Hippocampus Middle	brain

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