Variant report

Variant	nsv947378
Chromosome Location	chr1:209466803-209470268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209467592..209471534-chr1:209473372..209476439,3	MCF-7	breast:
2	chr1:209464916..209466714-chr1:209469839..209472080,2	K562	blood:
3	chr1:209460952..209462722-chr1:209468358..209470837,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAMK1G-3	chr1:209467397-209467471	NONHSAT009201

Extended variants
information (count: 125 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561008392	chr1:209466831-209466832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193047570	chr1:209466850-209466851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539801424	chr1:209466866-209466867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142743951	chr1:209466898-209466899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183431390	chr1:209466922-209466923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550780114	chr1:209466930-209466931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568942855	chr1:209466970-209466971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529864472	chr1:209467000-209467001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147386086	chr1:209467005-209467006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548416734	chr1:209467010-209467011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188884553	chr1:209467045-209467046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534195449	chr1:209467092-209467093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558984557	chr1:209467115-209467116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12037468	chr1:209467128-209467129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538151702	chr1:209467150-209467151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140920633	chr1:209467186-209467187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138852921	chr1:209467205-209467206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143257650	chr1:209467254-209467255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370894907	chr1:209467294-209467295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544039642	chr1:209467319-209467320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545033233	chr1:209467411-209467412	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs574939448	chr1:209467430-209467431	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs80159914	chr1:209467470-209467471	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs74714789	chr1:209467471-209467472	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs193078998	chr1:209467473-209467474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563706653	chr1:209467483-209467484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185867604	chr1:209467490-209467491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539870612	chr1:209467508-209467509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs906353	chr1:209467522-209467523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532313690	chr1:209467549-209467550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544187908	chr1:209467575-209467576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545089991	chr1:209467597-209467598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113436520	chr1:209467622-209467623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529868311	chr1:209467650-209467651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548329228	chr1:209467693-209467694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191416419	chr1:209467720-209467721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527761879	chr1:209467733-209467734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116801631	chr1:209467751-209467752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570871273	chr1:209467774-209467775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368429134	chr1:209467783-209467784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527238315	chr1:209467853-209467854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550246474	chr1:209467913-209467914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556602743	chr1:209467915-209467916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368939320	chr1:209467941-209467942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546700266	chr1:209467947-209467948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112105527	chr1:209467948-209467949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144792330	chr1:209467957-209467958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148574316	chr1:209467972-209467973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142985249	chr1:209468045-209468046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572648764	chr1:209468046-209468047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	20406844	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209465000-209469200	Weak transcription	Fetal Stomach	stomach
2	chr1:209465800-209469200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:209467200-209475800	Weak transcription	Fetal Lung	lung
4	chr1:209469200-209469400	Enhancers	Fetal Stomach	stomach

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