Variant report

Variant	nsv946547
Chromosome Location	chr1:185818492-185821818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185801576..185804195-chr1:185819606..185821997,2	K562	blood:
2	chr1:185819007..185822364-chr1:185824027..185827507,3	K562	blood:
3	chr1:185818279..185821165-chr1:185821421..185823779,2	MCF-7	breast:
4	chr1:185818279..185821165-chr1:185821421..185823779,2	MCF-7	breast:
5	chr1:185816758..185818830-chr1:185820154..185822881,2	MCF-7	breast:
6	chr1:185816758..185818830-chr1:185820154..185822881,2	MCF-7	breast:

Extended variants
information (count: 124 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564244041	chr1:185818497-185818498	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573614561	chr1:185818515-185818516	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544243838	chr1:185818570-185818571	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115268613	chr1:185818581-185818582	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549466933	chr1:185818613-185818614	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368516351	chr1:185818623-185818624	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183760067	chr1:185818640-185818641	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562699602	chr1:185818735-185818736	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143285517	chr1:185818745-185818746	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114104369	chr1:185818756-185818757	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578031281	chr1:185818768-185818769	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567034959	chr1:185818872-185818873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534544985	chr1:185818901-185818902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552573172	chr1:185818986-185818987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150050607	chr1:185819101-185819102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76667472	chr1:185819109-185819110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570881645	chr1:185819124-185819125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538297331	chr1:185819139-185819140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114770111	chr1:185819154-185819155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188089654	chr1:185819169-185819170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535272301	chr1:185819196-185819197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74133690	chr1:185819267-185819268	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148337369	chr1:185819280-185819281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551689133	chr1:185819288-185819289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143014100	chr1:185819399-185819400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557283151	chr1:185819408-185819409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575639863	chr1:185819418-185819419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543052411	chr1:185819460-185819461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141724963	chr1:185819464-185819465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115816355	chr1:185819476-185819477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542044741	chr1:185819505-185819506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185445895	chr1:185819526-185819527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560133001	chr1:185819539-185819540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116258993	chr1:185819557-185819558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190303315	chr1:185819618-185819619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181504804	chr1:185819643-185819644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74856173	chr1:185819690-185819691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377066609	chr1:185819743-185819744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11580897	chr1:185819749-185819750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531729450	chr1:185819760-185819761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527480968	chr1:185819776-185819777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550245006	chr1:185819778-185819779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568446856	chr1:185819815-185819816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185721362	chr1:185819839-185819840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553656723	chr1:185819857-185819858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565869467	chr1:185819870-185819871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188869075	chr1:185819876-185819877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181253805	chr1:185819899-185819900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374934045	chr1:185819907-185819908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548861606	chr1:185819919-185819920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185803200-185850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185813400-185819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:185813400-185821600	Weak transcription	Aorta	Aorta
4	chr1:185813400-185839000	Weak transcription	Fetal Lung	lung
5	chr1:185813800-185819400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:185816400-185819600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:185816600-185819600	Weak transcription	NH-A	brain
8	chr1:185816600-185819600	Weak transcription	NHLF	lung
9	chr1:185816800-185819200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:185816800-185819400	Weak transcription	NHDF-Ad	bronchial
11	chr1:185816800-185819600	Weak transcription	Osteobl	bone
12	chr1:185816800-185823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:185817400-185818600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr1:185817400-185820600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:185817400-185821200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:185817600-185818800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:185817600-185819800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:185817600-185820400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:185817600-185821000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:185817600-185821000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:185817600-185821000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:185818000-185818600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:185818000-185820400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:185818000-185821400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:185818200-185818600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:185818200-185818600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:185818200-185818800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:185818200-185818800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:185818200-185820000	Enhancers	HMEC	breast
30	chr1:185818200-185820200	Enhancers	NHEK	skin
31	chr1:185818400-185818600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:185818600-185819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:185818600-185819400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:185818600-185819600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:185818800-185819200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:185818800-185819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:185818800-185819200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:185819000-185819600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr1:185819200-185819400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:185819200-185819800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:185819200-185820200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:185819200-185824400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:185819400-185819600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr1:185819400-185819800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:185819400-185819800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:185819400-185819800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:185819400-185820000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:185819400-185820200	Enhancers	NHDF-Ad	bronchial
49	chr1:185819400-185820600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:185819600-185819800	Enhancers	Esophagus	oesophagus

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