Variant report

Variant	nsv517083
Chromosome Location	chr1:170371403-170380480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 323 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:323 , 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	rs1889111	chr1:170371403-170371404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565350736	chr1:170371497-170371498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182479463	chr1:170371532-170371533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186754862	chr1:170371537-170371538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567615277	chr1:170371541-170371542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559735289	chr1:170371563-170371564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530398641	chr1:170371566-170371567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548637059	chr1:170371590-170371591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36078353	chr1:170371599-170371600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117094202	chr1:170371632-170371633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542553185	chr1:170371679-170371680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530397542	chr1:170371687-170371688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79388769	chr1:170371690-170371691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35012611	chr1:170371729-170371730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536589163	chr1:170371735-170371736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370033169	chr1:170371741-170371742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534462449	chr1:170371749-170371750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1889112	chr1:170371766-170371767	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568187711	chr1:170371801-170371802	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535722690	chr1:170371869-170371870	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557255287	chr1:170371877-170371878	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575628852	chr1:170371882-170371883	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566697352	chr1:170371898-170371899	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537395694	chr1:170371980-170371981	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191815519	chr1:170372010-170372011	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183979771	chr1:170372111-170372112	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190321271	chr1:170372125-170372126	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545096281	chr1:170372162-170372163	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574900717	chr1:170372190-170372191	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542041060	chr1:170372259-170372260	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563595201	chr1:170372275-170372276	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531122524	chr1:170372317-170372318	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551747743	chr1:170372326-170372327	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10919387	chr1:170372435-170372436	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs112356965	chr1:170372436-170372437	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12088917	chr1:170372438-170372439	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192831016	chr1:170372444-170372445	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535263949	chr1:170372490-170372491	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10919388	chr1:170372503-170372504	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569131535	chr1:170372517-170372518	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539782709	chr1:170372556-170372557	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116135150	chr1:170372586-170372587	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185215331	chr1:170372594-170372595	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35769557	chr1:170372617-170372618	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10919389	chr1:170372712-170372713	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs369049574	chr1:170372721-170372722	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553164549	chr1:170372746-170372747	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145862716	chr1:170372752-170372753	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190487449	chr1:170372779-170372780	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563583086	chr1:170372888-170372889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170370400-170373400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:170370800-170371600	Enhancers	Adipose Nuclei	Adipose
3	chr1:170370800-170371800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:170371200-170372400	Enhancers	NHDF-Ad	bronchial
5	chr1:170371400-170372200	Enhancers	NHLF	lung
6	chr1:170371600-170372200	Enhancers	Osteobl	bone
7	chr1:170371800-170372800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:170372200-170376000	Weak transcription	NHLF	lung
9	chr1:170372200-170376000	Weak transcription	Osteobl	bone
10	chr1:170372400-170376000	Weak transcription	NHDF-Ad	bronchial
11	chr1:170372800-170373200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:170373200-170376000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:170373400-170376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:170376000-170376400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:170376000-170377200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:170376000-170377400	Enhancers	NHLF	lung
17	chr1:170376000-170377400	Enhancers	Osteobl	bone
18	chr1:170376000-170379800	Enhancers	NHDF-Ad	bronchial
19	chr1:170376000-170385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:170376400-170376600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:170376400-170376800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:170376400-170376800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:170376600-170377200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:170376600-170379800	Weak transcription	Fetal Heart	heart
25	chr1:170376800-170377200	Enhancers	HMEC	breast
26	chr1:170376800-170377600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:170376800-170379200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:170377200-170377400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:170377200-170379200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:170377400-170379000	Weak transcription	Osteobl	bone
31	chr1:170377400-170379200	Weak transcription	NHLF	lung
32	chr1:170377400-170380000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:170377600-170379000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:170379000-170379200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:170379000-170380800	Enhancers	Osteobl	bone
36	chr1:170379200-170379400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:170379200-170379400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:170379200-170379600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr1:170379200-170380600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:170379200-170380600	Enhancers	HSMM	muscle
41	chr1:170379200-170381400	Enhancers	NHLF	lung
42	chr1:170379400-170379600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:170379400-170380400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:170379400-170380400	Enhancers	NH-A	brain
45	chr1:170379400-170380800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:170379600-170379800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:170379600-170380000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:170379600-170380000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:170379600-170380600	Enhancers	Fetal Stomach	stomach
50	chr1:170379800-170380200	Enhancers	Placenta Amnion	Placenta Amnion

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