Variant report

Variant	nsv548093
Chromosome Location	chr1:165603660-165604189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9333387	chr1:165603672-165603673	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80160870	chr1:165603757-165603758	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573526095	chr1:165603783-165603784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs79480594	chr1:165603827-165603828	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565598274	chr1:165603850-165603851	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs9333388	chr1:165603866-165603867	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201185718	chr1:165603882-165603883	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575818034	chr1:165603886-165603887	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs9333389	chr1:165603887-165603888	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1538114	chr1:165603894-165603895	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9333390	chr1:165603915-165603916	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546736003	chr1:165603956-165603957	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569026103	chr1:165603958-165603959	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560203111	chr1:165603962-165603963	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9333391	chr1:165603969-165603970	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9333392	chr1:165603973-165603974	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370480084	chr1:165603978-165603979	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372510535	chr1:165603991-165603992	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs369859490	chr1:165604001-165604002	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367744895	chr1:165604035-165604036	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574515982	chr1:165604123-165604124	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184099314	chr1:165604160-165604161	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165601400-165603800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:165601400-165604400	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr1:165601600-165604400	Weak transcription	Primary T cells from cord blood	blood
4	chr1:165601600-165605800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:165601600-165608400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:165601600-165615200	Weak transcription	Spleen	Spleen
7	chr1:165601800-165603800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:165601800-165607400	Enhancers	Brain Substantia Nigra	brain
9	chr1:165601800-165615200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:165602000-165604200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:165602000-165604400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:165602000-165605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:165602000-165622800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:165602200-165603800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:165602200-165603800	Enhancers	Colon Smooth Muscle	Colon
16	chr1:165602200-165604000	Enhancers	K562	blood
17	chr1:165602200-165604000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr1:165602200-165604600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:165602200-165604600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:165602200-165604800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:165602200-165605000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:165602200-165605200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:165602200-165606000	Enhancers	Brain Anterior Caudate	brain
24	chr1:165602200-165624200	Weak transcription	Dnd41	blood
25	chr1:165602400-165603800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr1:165602400-165604000	Enhancers	Fetal Brain Female	brain
27	chr1:165602400-165604200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:165602400-165604600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:165602400-165604600	Enhancers	GM12878-XiMat	blood
30	chr1:165602400-165604800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:165602400-165605200	Enhancers	Fetal Lung	lung
32	chr1:165602400-165606000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:165602400-165606800	Enhancers	Brain Angular Gyrus	brain
34	chr1:165602400-165614400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:165602400-165614800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:165602400-165615000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:165602600-165603800	Enhancers	Fetal Intestine Large	intestine
38	chr1:165602600-165604200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:165602600-165604200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:165602600-165604200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:165602600-165604200	Enhancers	Brain Hippocampus Middle	brain
42	chr1:165602600-165604800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr1:165602600-165605000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:165602600-165605200	Enhancers	A549	lung
45	chr1:165602600-165605400	Weak transcription	Fetal Stomach	stomach
46	chr1:165602600-165605400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:165602600-165605800	Enhancers	Right Ventricle	heart
48	chr1:165602600-165606000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:165602600-165606200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:165602600-165606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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