Variant report

Variant	nsv1008939
Chromosome Location	chr1:216688284-216712570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:216710901..216713537-chr1:216715491..216718215,2	MCF-7	breast:
2	chr1:216705301..216708105-chr1:216716452..216719098,3	MCF-7	breast:

Extended variants
information (count: 1007 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1007 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543056477	chr1:216688288-216688289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369069663	chr1:216688301-216688302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35668576	chr1:216688302-216688303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563043214	chr1:216688309-216688310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536310785	chr1:216688318-216688319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541287383	chr1:216688326-216688327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78483749	chr1:216688327-216688328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71556653	chr1:216688328-216688329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2799470	chr1:216688346-216688347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542326344	chr1:216688369-216688370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564571767	chr1:216688483-216688484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183324877	chr1:216688492-216688493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551766895	chr1:216688493-216688494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9803687	chr1:216688527-216688528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs188778111	chr1:216688529-216688530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551040066	chr1:216688574-216688575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192665738	chr1:216688605-216688606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2809294	chr1:216688609-216688610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185056647	chr1:216688616-216688617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550522799	chr1:216688619-216688620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2818962	chr1:216688622-216688623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548183908	chr1:216688677-216688678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137935178	chr1:216688678-216688679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557750500	chr1:216688715-216688716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188143856	chr1:216688738-216688739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2818961	chr1:216688759-216688760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556499250	chr1:216688790-216688791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536908592	chr1:216688796-216688797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9803970	chr1:216688839-216688840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142397742	chr1:216688858-216688859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115987654	chr1:216688883-216688884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573343051	chr1:216688884-216688885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545626173	chr1:216688929-216688930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2818960	chr1:216688934-216688935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531180909	chr1:216688982-216688983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183654133	chr1:216688992-216688993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2784467	chr1:216689017-216689018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530138866	chr1:216689019-216689020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2818959	chr1:216689043-216689044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2818958	chr1:216689085-216689086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61253664	chr1:216689134-216689135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs2818957	chr1:216689141-216689142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571363769	chr1:216689170-216689171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536913759	chr1:216689205-216689206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11117606	chr1:216689214-216689215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566904638	chr1:216689219-216689220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535880990	chr1:216689248-216689249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552786249	chr1:216689272-216689273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572939165	chr1:216689275-216689276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573864047	chr1:216689315-216689316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216672200-216699600	Weak transcription	Gastric	stomach
2	chr1:216673200-216704600	Weak transcription	Pancreas	Pancrea
3	chr1:216674600-216702000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:216680600-216691800	Weak transcription	Placenta	Placenta
5	chr1:216680600-216694000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:216680600-216704600	Weak transcription	Left Ventricle	heart
7	chr1:216689600-216690600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:216690600-216690800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:216690800-216694000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:216691000-216691800	Enhancers	Fetal Brain Male	brain
11	chr1:216691800-216692600	Strong transcription	Placenta	Placenta
12	chr1:216692400-216692600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:216692600-216692800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr1:216692600-216693000	Active TSS	NHDF-Ad	bronchial
15	chr1:216692600-216694400	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:216692600-216705200	Weak transcription	Placenta	Placenta
17	chr1:216692800-216693000	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr1:216694000-216696000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:216694400-216696400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:216694800-216695000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:216695200-216696400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:216696000-216696600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:216696000-216697400	Enhancers	Fetal Heart	heart
24	chr1:216696400-216697000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:216696400-216697200	Enhancers	Fetal Lung	lung
26	chr1:216696400-216697400	Enhancers	NHLF	lung
27	chr1:216696400-216697600	Enhancers	Primary B cells from peripheral blood	blood
28	chr1:216696600-216696800	Enhancers	Primary B cells from cord blood	blood
29	chr1:216696600-216697200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:216696800-216697400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:216696800-216697800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:216697000-216697200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:216697000-216698000	Weak transcription	Primary B cells from cord blood	blood
34	chr1:216697200-216697600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:216697200-216697600	Flanking Active TSS	Fetal Lung	lung
36	chr1:216697200-216697800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr1:216697400-216704000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:216697400-216704600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:216697400-216704600	Weak transcription	Fetal Heart	heart
40	chr1:216697600-216698000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:216697600-216698400	Enhancers	Fetal Lung	lung
42	chr1:216697600-216704400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:216697800-216698000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:216697800-216704400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:216698000-216698200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr1:216698000-216698400	Enhancers	Primary B cells from cord blood	blood
47	chr1:216698000-216704000	Enhancers	Primary B cells from peripheral blood	blood
48	chr1:216698200-216702400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:216698400-216699000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:216698400-216701600	Weak transcription	Primary B cells from cord blood	blood

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