Variant report

Variant	nsv549190
Chromosome Location	chr1:215903837-215928483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215919175..215921011-chr1:215923507..215925193,2	K562	blood:
2	chr1:215898927..215901081-chr1:215901908..215904757,2	K562	blood:
3	chr1:215919175..215921011-chr1:215923507..215925193,2	K562	blood:
4	chr1:215910354..215912136-chr1:216136601..216138157,2	K562	blood:

Extended variants
information (count: 363 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2797261	chr1:215903837-215903838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567688010	chr1:215903888-215903889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17025267	chr1:215903907-215903908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186468310	chr1:215903936-215903937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149720234	chr1:215903939-215903940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567055184	chr1:215903946-215903947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539186031	chr1:215903995-215903996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559212946	chr1:215904008-215904009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571339681	chr1:215904014-215904015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145035388	chr1:215904030-215904031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138823997	chr1:215904044-215904045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573626896	chr1:215904093-215904094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542257936	chr1:215904123-215904124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530241027	chr1:215904133-215904134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553188351	chr1:215904165-215904166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573069690	chr1:215904166-215904167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544775222	chr1:215904202-215904203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188107662	chr1:215904210-215904211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575320118	chr1:215904216-215904217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550265159	chr1:215904237-215904238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544341971	chr1:215904248-215904249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111858939	chr1:215904265-215904266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561124211	chr1:215904286-215904287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570111970	chr1:215904296-215904297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77473719	chr1:215904441-215904442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530056764	chr1:215904442-215904443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11120614	chr1:215904480-215904481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs180916865	chr1:215904483-215904484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2820719	chr1:215904484-215904485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372450905	chr1:215904486-215904487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569511782	chr1:215904515-215904516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537138502	chr1:215904527-215904528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186414121	chr1:215904563-215904564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567256398	chr1:215904617-215904618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2797260	chr1:215904657-215904658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs141911019	chr1:215904680-215904681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573069274	chr1:215904718-215904719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538581051	chr1:215904788-215904789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191222007	chr1:215904830-215904831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4330896	chr1:215904873-215904874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544006404	chr1:215904975-215904976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183338432	chr1:215905004-215905005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553568982	chr1:215905086-215905087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376038997	chr1:215905158-215905159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574855370	chr1:215905170-215905171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567087392	chr1:215905232-215905233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187116410	chr1:215905246-215905247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560315528	chr1:215905291-215905292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532841515	chr1:215905365-215905366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145572875	chr1:215905372-215905373	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Liposarcoma	21253554	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215903600-215905600	Enhancers	NHDF-Ad	bronchial
2	chr1:215903800-215904800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:215904000-215905600	Enhancers	Liver	Liver
4	chr1:215904600-215905600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:215904600-215905600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:215917400-215918200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:215917400-215918400	Enhancers	HSMM	muscle
8	chr1:215917600-215918800	Enhancers	HSMMtube	muscle
9	chr1:215918200-215922200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:215918800-215922800	Weak transcription	HSMMtube	muscle
11	chr1:215920000-215920400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:215921600-215923200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:215921800-215923200	Enhancers	NH-A	brain
14	chr1:215921800-215923600	Enhancers	NHDF-Ad	bronchial
15	chr1:215922000-215922400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:215922000-215923200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:215922000-215923400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:215922200-215923600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:215922400-215922600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:215922400-215923000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:215922400-215923200	Enhancers	Osteobl	bone
22	chr1:215922400-215923600	Enhancers	NHLF	lung
23	chr1:215922400-215923800	Enhancers	HSMM	muscle
24	chr1:215922600-215923400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:215922800-215923600	Enhancers	HSMMtube	muscle
26	chr1:215923200-215924000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:215924000-215924200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:215927400-215928200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr1:215928200-215928600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:215928200-215948800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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