Variant report

Variant	nsv514044
Chromosome Location	chr1:217290161-217293537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:217283584..217286068-chr1:217290036..217292853,4	MCF-7	breast:
2	chr1:217291531..217294647-chr1:217299558..217302385,3	MCF-7	breast:
3	chr1:217291551..217293448-chr1:217303184..217305130,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529657705	chr1:217290180-217290181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534253670	chr1:217290201-217290202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554332255	chr1:217290202-217290203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183443176	chr1:217290206-217290207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187679487	chr1:217290209-217290210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562781935	chr1:217290234-217290235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11576806	chr1:217290281-217290282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs192968865	chr1:217290306-217290307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72743323	chr1:217290385-217290386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369669730	chr1:217290407-217290408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529854704	chr1:217290469-217290470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114544310	chr1:217290519-217290520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565874026	chr1:217290560-217290561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559792916	chr1:217290574-217290575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539714720	chr1:217290584-217290585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532109763	chr1:217290630-217290631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577929633	chr1:217290659-217290660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551753699	chr1:217290702-217290703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568765260	chr1:217290734-217290735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78111241	chr1:217290753-217290754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548618941	chr1:217290769-217290770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185138099	chr1:217290776-217290777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147101497	chr1:217290782-217290783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138483131	chr1:217290786-217290787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558273092	chr1:217290797-217290798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189662810	chr1:217290814-217290815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143981253	chr1:217290839-217290840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565537482	chr1:217290841-217290842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576366445	chr1:217290844-217290845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146650749	chr1:217290899-217290900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148319112	chr1:217290913-217290914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540022971	chr1:217290938-217290939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192816451	chr1:217290941-217290942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532032869	chr1:217290974-217290975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183798297	chr1:217290978-217290979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562470887	chr1:217290983-217290984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555522477	chr1:217290990-217290991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554836483	chr1:217291003-217291004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531232526	chr1:217291012-217291013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548200055	chr1:217291051-217291052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568756374	chr1:217291112-217291113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545411433	chr1:217291158-217291159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528034683	chr1:217291162-217291163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376826398	chr1:217291195-217291196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375664416	chr1:217291229-217291230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6674783	chr1:217291250-217291251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76606809	chr1:217291270-217291271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560607322	chr1:217291271-217291272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78914224	chr1:217291309-217291310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373881648	chr1:217291312-217291313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217288800-217290200	Enhancers	Fetal Heart	heart
2	chr1:217290200-217291400	Weak transcription	Fetal Heart	heart
3	chr1:217291400-217291800	Enhancers	Fetal Heart	heart
4	chr1:217292600-217293000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:217292600-217293400	Enhancers	Muscle Satellite Cultured Cells	--

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