Variant report

Variant	nsv872170
Chromosome Location	chr1:119281083-119300747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:119288031..119290342-chr1:119291102..119293606,3	MCF-7	breast:
2	chr1:119288031..119290342-chr1:119291102..119293606,3	MCF-7	breast:
3	chr1:119278498..119281362-chr1:119281660..119283995,2	MCF-7	breast:
4	chr1:119278498..119281362-chr1:119281660..119283995,2	MCF-7	breast:
5	chr1:119292388..119293965-chr1:119297872..119300610,2	MCF-7	breast:
6	chr1:119292388..119293965-chr1:119297872..119300610,2	MCF-7	breast:

Extended variants
information (count: 643 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7526687	chr1:119281083-119281084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138781234	chr1:119281165-119281166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12026712	chr1:119281170-119281171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544391572	chr1:119281172-119281173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183326734	chr1:119281177-119281178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533591673	chr1:119281206-119281207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188382476	chr1:119281238-119281239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146244387	chr1:119281247-119281248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572956855	chr1:119281344-119281345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527981817	chr1:119281353-119281354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528718623	chr1:119281415-119281416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192663925	chr1:119281444-119281445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73016762	chr1:119281605-119281606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183026090	chr1:119281614-119281615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372077095	chr1:119281653-119281654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547171083	chr1:119281687-119281688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200189776	chr1:119281715-119281716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34127238	chr1:119281745-119281746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111962736	chr1:119281761-119281762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186799678	chr1:119281774-119281775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538479525	chr1:119281864-119281865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199785929	chr1:119281865-119281866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553538328	chr1:119281926-119281927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572053479	chr1:119281935-119281936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542558888	chr1:119281952-119281953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139275207	chr1:119281961-119281962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573968614	chr1:119282001-119282002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544568543	chr1:119282021-119282022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377176354	chr1:119282058-119282059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556730954	chr1:119282139-119282140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533452303	chr1:119282158-119282159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141407226	chr1:119282169-119282170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398103222	chr1:119282171-119282172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372315227	chr1:119282172-119282173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560665998	chr1:119282209-119282210	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs527842447	chr1:119282260-119282261	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549422917	chr1:119282278-119282279	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs561597280	chr1:119282346-119282347	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531236374	chr1:119282355-119282356	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549734224	chr1:119282403-119282404	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571048022	chr1:119282462-119282463	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538340912	chr1:119282469-119282470	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544206034	chr1:119282525-119282526	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114266117	chr1:119282586-119282587	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184963495	chr1:119282587-119282588	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189353512	chr1:119282629-119282630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144302990	chr1:119282652-119282653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536185239	chr1:119282657-119282658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554862920	chr1:119282694-119282695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537889864	chr1:119282740-119282741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119279400-119282400	Enhancers	Fetal Muscle Leg	muscle
2	chr1:119280800-119282800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:119281000-119282600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:119281200-119282000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:119281200-119283000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:119281200-119283000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:119281400-119283000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:119281400-119283000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:119281800-119282600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr1:119281800-119282600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:119281800-119282800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:119281800-119282800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:119282000-119282200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:119282000-119282400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:119282000-119282600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:119282000-119282600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:119282000-119282600	Enhancers	Psoas Muscle	Psoas
18	chr1:119282000-119282600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:119282200-119282600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:119282200-119282600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:119282400-119287200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:119282600-119283000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:119282600-119292600	Weak transcription	Psoas Muscle	Psoas
24	chr1:119287200-119287600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:119292400-119293600	Enhancers	Fetal Heart	heart
26	chr1:119292800-119294600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:119293400-119293800	Enhancers	NHDF-Ad	bronchial
28	chr1:119293600-119297000	Weak transcription	Fetal Heart	heart
29	chr1:119297000-119299800	Enhancers	Fetal Heart	heart
30	chr1:119297200-119298000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr1:119297400-119297600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:119297400-119298200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr1:119297400-119298600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:119297600-119297800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr1:119297600-119297800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr1:119297800-119298000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr1:119297800-119298000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr1:119297800-119298000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr1:119297800-119298000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:119299000-119301000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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