Variant report

Variant	nsv817928
Chromosome Location	chr2:53844902-53846547
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	chr2:53838050..53841676-chr2:53842441..53845129,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR75-5	chr2:53843602-53845521	ucscGeneNc_uc002rxj_1

Extended variants
information (count: 45 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6545358	chr2:53844902-53844903	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116758146	chr2:53844913-53844914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs190986544	chr2:53844972-53844973	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs71413243	chr2:53844987-53844988	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs531398164	chr2:53845124-53845125	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs534159407	chr2:53845133-53845134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs114800538	chr2:53845150-53845151	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs574142238	chr2:53845158-53845159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs6748765	chr2:53845228-53845229	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555536237	chr2:53845234-53845235	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs575382665	chr2:53845268-53845269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs114338359	chr2:53845291-53845292	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs564010643	chr2:53845317-53845318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs371863978	chr2:53845339-53845340	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs556940403	chr2:53845360-53845361	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs538579860	chr2:53845405-53845406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs558152890	chr2:53845420-53845421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs539799518	chr2:53845442-53845443	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs571839463	chr2:53845468-53845469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs559718236	chr2:53845519-53845520	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs528950493	chr2:53845520-53845521	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs530011959	chr2:53846202-53846203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550162304	chr2:53846264-53846265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570009730	chr2:53846266-53846267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373083904	chr2:53846267-53846268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557526776	chr2:53846328-53846329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571147965	chr2:53846349-53846350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533819261	chr2:53846356-53846357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553679708	chr2:53846359-53846360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577840767	chr2:53846396-53846397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141687555	chr2:53846404-53846405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112581426	chr2:53846438-53846439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116567766	chr2:53846440-53846441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188274443	chr2:53846447-53846448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576011227	chr2:53846449-53846450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545173586	chr2:53846450-53846451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6753333	chr2:53846456-53846457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116228652	chr2:53846461-53846462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35697771	chr2:53846465-53846466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192170561	chr2:53846466-53846467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34722939	chr2:53846488-53846489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10167220	chr2:53846489-53846490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549860405	chr2:53846501-53846502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529502605	chr2:53846528-53846529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6753258	chr2:53846547-53846548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53846200-53846600	Enhancers	Fetal Heart	heart
2	chr2:53846200-53847600	Enhancers	Fetal Brain Male	brain
3	chr2:53846400-53846800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:53846400-53847400	Enhancers	Brain Cingulate Gyrus	brain

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