Variant report

Variant	nsv549196
Chromosome Location	chr1:216209672-216217785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 340 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:340 , 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	rs6692241	chr1:216209672-216209673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543650009	chr1:216209689-216209690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563462632	chr1:216209711-216209712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371289177	chr1:216209790-216209791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549433979	chr1:216209826-216209827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559523330	chr1:216209827-216209828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183490099	chr1:216209836-216209837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76096116	chr1:216209850-216209851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370438049	chr1:216209855-216209856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552161030	chr1:216209883-216209884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543948934	chr1:216209897-216209898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551459901	chr1:216209902-216209903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79370944	chr1:216209912-216209913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117733235	chr1:216209970-216209971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74143913	chr1:216210004-216210005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188633261	chr1:216210037-216210038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535228653	chr1:216210059-216210060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192828381	chr1:216210085-216210086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572015583	chr1:216210093-216210094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534612370	chr1:216210106-216210107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199967850	chr1:216210146-216210147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557744748	chr1:216210147-216210148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552287580	chr1:216210157-216210158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571559661	chr1:216210158-216210159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60180090	chr1:216210168-216210169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543736898	chr1:216210219-216210220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71639585	chr1:216210233-216210234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374382685	chr1:216210235-216210236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563503464	chr1:216210318-216210319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185304699	chr1:216210339-216210340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542423576	chr1:216210371-216210372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527577824	chr1:216210374-216210375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559821735	chr1:216210419-216210420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547220514	chr1:216210427-216210428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528531748	chr1:216210507-216210508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187880327	chr1:216210545-216210546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4480330	chr1:216210566-216210567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374657029	chr1:216210581-216210582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536005598	chr1:216210586-216210587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191751452	chr1:216210594-216210595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374487624	chr1:216210596-216210597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564930185	chr1:216210603-216210604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4338329	chr1:216210619-216210620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541392010	chr1:216210709-216210710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75041019	chr1:216210727-216210728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183580543	chr1:216210743-216210744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555938432	chr1:216210747-216210748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567582488	chr1:216210770-216210771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530336115	chr1:216210844-216210845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546830684	chr1:216210856-216210857	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216206600-216211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:216211800-216212200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:216212200-216216800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:216216800-216218800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:216217000-216217200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:216217400-216218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:216217400-216221200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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