Variant report

Variant	nsv933497
Chromosome Location	chr2:50692381-50699386
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	chr2:50698680..50701343-chr2:50702519..50705361,2	K562	blood:

Extended variants
information (count: 326 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569319151	chr2:50692439-50692440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563591672	chr2:50692455-50692456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12713101	chr2:50692459-50692460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368634515	chr2:50692460-50692461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535949911	chr2:50692499-50692500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113964397	chr2:50692534-50692535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371413077	chr2:50692537-50692538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201134896	chr2:50692552-50692553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202198828	chr2:50692556-50692557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3213756	chr2:50692560-50692561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200767650	chr2:50692571-50692572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190177055	chr2:50692576-50692577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181811622	chr2:50692590-50692591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201871194	chr2:50692600-50692601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200286439	chr2:50692617-50692618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376483387	chr2:50692633-50692634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201151714	chr2:50692650-50692651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201963074	chr2:50692663-50692664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563024628	chr2:50692677-50692678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540872844	chr2:50692688-50692689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116236999	chr2:50692695-50692696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201553227	chr2:50692706-50692707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377593434	chr2:50692725-50692726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141468277	chr2:50692742-50692743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373454919	chr2:50692744-50692745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549177612	chr2:50692767-50692768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200579876	chr2:50692809-50692810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10168838	chr2:50692819-50692820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369272975	chr2:50692857-50692858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371535183	chr2:50692873-50692874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74925905	chr2:50692888-50692889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548694406	chr2:50692916-50692917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13398860	chr2:50692940-50692941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572012282	chr2:50692953-50692954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532853744	chr2:50692999-50693000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548042504	chr2:50693034-50693035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566106025	chr2:50693036-50693037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536368194	chr2:50693047-50693048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554318496	chr2:50693062-50693063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377096516	chr2:50693079-50693080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543353112	chr2:50693081-50693082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569641076	chr2:50693101-50693102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187219325	chr2:50693115-50693116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs759504	chr2:50693162-50693163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs759503	chr2:50693165-50693166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs5831125	chr2:50693227-50693228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78711151	chr2:50693230-50693231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540913843	chr2:50693236-50693237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189289008	chr2:50693240-50693241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552767129	chr2:50693266-50693267	Weak transcription Enhancers	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50691200-50711600	Weak transcription	Fetal Brain Female	brain
2	chr2:50691200-50716000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:50691400-50703000	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:50691600-50718600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:50692000-50692400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:50692400-50692600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:50692400-50695600	Enhancers	Brain Germinal Matrix	brain
8	chr2:50692600-50705400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:50695200-50696200	Enhancers	Stomach Mucosa	stomach
10	chr2:50695600-50709400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:50696600-50698000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:50697000-50697400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:50697000-50697400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:50699000-50742000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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