Variant report

Variant	nsv963218
Chromosome Location	chr2:31997307-32013530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:31989970..31992552-chr2:31995524..31998361,2	K562	blood:
2	chr2:31997008..31999119-chr2:32002900..32004751,2	K562	blood:
3	chr2:31989970..31994045-chr2:31995524..31998361,3	K562	blood:
4	chr2:32001763..32003551-chr2:32004444..32006293,2	K562	blood:
5	chr2:31997008..31999119-chr2:32002900..32004751,2	K562	blood:
6	chr2:32001763..32003551-chr2:32004444..32006293,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPY30-2	chr2:31997832-31997991	XLOC_002043
2	lnc-DPY30-2	chr2:31997831-31997991	NONHSAT069953

No data

Variant related genes	Relation type
CDKN1A	miRNA target sites

Extended variants
information (count: 160 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569823535	chr2:31997923-31997924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs140234612	chr2:31997991-31997992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs540911531	chr2:32002207-32002208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561135648	chr2:32002208-32002209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149070546	chr2:32002216-32002217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186602461	chr2:32002228-32002229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569669661	chr2:32002244-32002245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562961964	chr2:32002246-32002247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143131350	chr2:32002305-32002306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536937547	chr2:32002306-32002307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552129359	chr2:32002391-32002392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565678018	chr2:32002392-32002393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190513624	chr2:32002393-32002394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548500463	chr2:32002416-32002417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183117724	chr2:32002480-32002481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540612540	chr2:32002539-32002540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148234882	chr2:32002544-32002545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186216892	chr2:32002546-32002547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558767950	chr2:32002607-32002608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539878941	chr2:32002653-32002654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190983811	chr2:32002667-32002668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184230072	chr2:32002673-32002674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141263787	chr2:32002712-32002713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560935956	chr2:32002722-32002723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574259386	chr2:32002731-32002732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570421701	chr2:32002742-32002743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543334150	chr2:32002759-32002760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147422514	chr2:32002798-32002799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532263843	chr2:32002821-32002822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78017647	chr2:32002844-32002845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559254096	chr2:32002848-32002849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528182398	chr2:32002884-32002885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574568713	chr2:32002925-32002926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548232755	chr2:32002931-32002932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138218162	chr2:32002980-32002981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531154618	chr2:32003023-32003024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551177478	chr2:32003029-32003030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12992416	chr2:32003032-32003033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571205782	chr2:32003070-32003071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187433181	chr2:32003084-32003085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553097286	chr2:32003095-32003096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142976305	chr2:32003107-32003108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535593642	chr2:32003124-32003125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56800251	chr2:32003139-32003140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371630971	chr2:32003166-32003167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555804419	chr2:32003187-32003188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556011459	chr2:32003197-32003198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543248586	chr2:32003216-32003217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192725471	chr2:32003257-32003258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182825281	chr2:32003328-32003329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32002200-32004600	Weak transcription	Right Atrium	heart
2	chr2:32003200-32003400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:32003200-32003400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:32003200-32004000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:32003400-32003600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:32008000-32008800	Enhancers	HMEC	breast
7	chr2:32010600-32011400	Enhancers	Fetal Intestine Large	intestine

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