Variant report

Variant	nsv549195
Chromosome Location	chr1:216198015-216215518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:216207908..216208562-chr1:216293070..216293728,3	MCF-7	breast:
2	chr1:216208048..216208557-chr1:216367548..216368089,2	MCF-7	breast:
3	chr1:216061603..216062225-chr1:216207802..216208490,2	MCF-7	breast:

Extended variants
information (count: 425 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75234728	chr1:216204813-216204814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141619143	chr1:216204830-216204831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542933548	chr1:216204886-216204887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542171485	chr1:216204898-216204899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559333998	chr1:216204906-216204907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572974046	chr1:216204918-216204919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12120923	chr1:216204949-216204950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs181853905	chr1:216204967-216204968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530865378	chr1:216205053-216205054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550569059	chr1:216205091-216205092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376694249	chr1:216205097-216205098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12121718	chr1:216205110-216205111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs558997492	chr1:216205183-216205184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546867942	chr1:216205184-216205185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566987505	chr1:216205221-216205222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539236201	chr1:216205245-216205246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147039794	chr1:216205272-216205273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12141297	chr1:216205281-216205282	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs186105492	chr1:216205326-216205327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368846864	chr1:216205386-216205387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536270621	chr1:216206037-216206038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552667855	chr1:216206048-216206049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566766065	chr1:216206066-216206067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6676313	chr1:216206083-216206084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558761426	chr1:216206117-216206118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6687538	chr1:216206138-216206139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553835609	chr1:216206151-216206152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544333915	chr1:216206162-216206163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554658489	chr1:216206227-216206228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574562898	chr1:216206261-216206262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143208835	chr1:216206290-216206291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560248499	chr1:216206291-216206292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373517226	chr1:216206299-216206300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546177179	chr1:216206368-216206369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182330044	chr1:216206386-216206387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148271190	chr1:216206474-216206475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548768106	chr1:216206476-216206477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567392115	chr1:216206485-216206486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74143911	chr1:216206499-216206500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73094506	chr1:216206563-216206564	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187692118	chr1:216206628-216206629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538948690	chr1:216206661-216206662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542257038	chr1:216206713-216206714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192581563	chr1:216206733-216206734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555727531	chr1:216206736-216206737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11120725	chr1:216206768-216206769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572455702	chr1:216206783-216206784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116360680	chr1:216206881-216206882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74903767	chr1:216206909-216206910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534026674	chr1:216206970-216206971	Enhancers 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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216204800-216205400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:216206000-216206600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:216206000-216207200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:216206600-216211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:216211800-216212200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:216212200-216216800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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