Variant report

Variant	nsv947342
Chromosome Location	chr1:186248708-186257519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186253069..186255534-chr1:186273980..186275987,2	K562	blood:
2	chr1:186246609..186248206-chr1:186249956..186251804,2	K562	blood:
3	chr1:186257389..186259569-chr1:186261742..186263895,2	K562	blood:
4	chr1:186244246..186247195-chr1:186247370..186250554,3	MCF-7	breast:

Extended variants
information (count: 316 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:316 , 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	rs560282464	chr1:186248710-186248711	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528732356	chr1:186248718-186248719	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112432772	chr1:186248764-186248765	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546855088	chr1:186248789-186248790	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571939705	chr1:186248805-186248806	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532659220	chr1:186248878-186248879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs73044674	chr1:186248913-186248914	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568864525	chr1:186249029-186249030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536354779	chr1:186249041-186249042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190590918	chr1:186249053-186249054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566847839	chr1:186249057-186249058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562998753	chr1:186249066-186249067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79133085	chr1:186249077-186249078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77425909	chr1:186249078-186249079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534028437	chr1:186249080-186249081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558434344	chr1:186249090-186249091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527840484	chr1:186249122-186249123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369519630	chr1:186249123-186249124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371574769	chr1:186249141-186249142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538092195	chr1:186249186-186249187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12123030	chr1:186249189-186249190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530518527	chr1:186249191-186249192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547927789	chr1:186249242-186249243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6679087	chr1:186249246-186249247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187320747	chr1:186249332-186249333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560319342	chr1:186249344-186249345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201608232	chr1:186249372-186249373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376330641	chr1:186249381-186249382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572028181	chr1:186249390-186249391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536729303	chr1:186249519-186249520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190222892	chr1:186249544-186249545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183276709	chr1:186249584-186249585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs33937627	chr1:186249592-186249593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs199979294	chr1:186249656-186249657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550820693	chr1:186249663-186249664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533524555	chr1:186249719-186249720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187755725	chr1:186249771-186249772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142019615	chr1:186249776-186249777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552391648	chr1:186249791-186249792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376782491	chr1:186249813-186249814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115762724	chr1:186249942-186249943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567102833	chr1:186250007-186250008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570025432	chr1:186250069-186250070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534009895	chr1:186250089-186250090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192544157	chr1:186250108-186250109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570514690	chr1:186250118-186250119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145871310	chr1:186250173-186250174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533289970	chr1:186250229-186250230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570541982	chr1:186250283-186250284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556547030	chr1:186250307-186250308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186244000-186251600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:186244200-186257000	Weak transcription	Primary T cells from cord blood	blood
3	chr1:186248200-186248800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:186248200-186249000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:186248200-186249000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:186248400-186249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:186248400-186249000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:186248600-186249000	Flanking Active TSS	NHDF-Ad	bronchial
9	chr1:186248600-186249200	Enhancers	Fetal Brain Male	brain
10	chr1:186249000-186252400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:186251400-186252400	Enhancers	Fetal Thymus	thymus
12	chr1:186251600-186252000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:186251600-186252400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:186251600-186252600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:186251600-186252800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:186251800-186252000	Enhancers	K562	blood
17	chr1:186252000-186252400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:186252000-186255600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:186252200-186253400	Enhancers	GM12878-XiMat	blood
20	chr1:186252400-186253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:186252400-186255800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:186252400-186256800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:186252400-186257800	Weak transcription	Fetal Thymus	thymus
24	chr1:186252800-186256400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:186253200-186255400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:186255400-186256800	Enhancers	HUVEC	blood vessel
27	chr1:186255400-186257200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:186255400-186257600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:186255400-186258000	Enhancers	Hela-S3	cervix
30	chr1:186255600-186256000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:186255600-186256000	Enhancers	Adipose Nuclei	Adipose
32	chr1:186255600-186257400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:186255600-186257400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:186255800-186258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:186256000-186256200	Enhancers	NHDF-Ad	bronchial
36	chr1:186256400-186259600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:186256600-186259400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr1:186256600-186259600	Enhancers	K562	blood
39	chr1:186256800-186260200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:186256800-186260400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:186257000-186257200	Enhancers	Thymus	Thymus
42	chr1:186257000-186257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:186257000-186258400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:186257000-186259000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr1:186257000-186259800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:186257000-186260000	Enhancers	Primary T cells from cord blood	blood
47	chr1:186257000-186260000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:186257000-186260000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:186257200-186259400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:186257200-186262000	Weak transcription	Thymus	Thymus

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