Variant report

Variant	nsv1001997
Chromosome Location	chr1:119195605-119217962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119217259..119219912-chr1:119224151..119226064,2	MCF-7	breast:
2	chr1:119187396..119190054-chr1:119204342..119206994,3	K562	blood:

Extended variants
information (count: 255 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572240079	chr1:119198038-119198039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569284043	chr1:119198046-119198047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531283562	chr1:119198131-119198132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370438776	chr1:119198137-119198138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149689340	chr1:119198158-119198159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530035132	chr1:119198167-119198168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76911323	chr1:119198172-119198173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536451761	chr1:119198218-119198219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555444769	chr1:119198236-119198237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573362540	chr1:119198311-119198312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548925185	chr1:119198326-119198327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567190202	chr1:119198344-119198345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190638000	chr1:119198345-119198346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373878111	chr1:119198361-119198362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141096455	chr1:119198384-119198385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112401111	chr1:119198401-119198402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17411912	chr1:119198421-119198422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545301208	chr1:119198489-119198490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368359570	chr1:119198497-119198498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528486978	chr1:119198545-119198546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540221268	chr1:119198585-119198586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534457958	chr1:119198744-119198745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562203570	chr1:119198753-119198754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529401749	chr1:119198761-119198762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551224187	chr1:119198792-119198793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145299720	chr1:119198824-119198825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113512180	chr1:119198881-119198882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559202705	chr1:119198889-119198890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200168613	chr1:119198943-119198944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567008370	chr1:119198953-119198954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182877380	chr1:119198955-119198956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554936100	chr1:119199038-119199039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567071904	chr1:119199044-119199045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs571009596	chr1:119199048-119199049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543202462	chr1:119199069-119199070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185772242	chr1:119199078-119199079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544851004	chr1:119199120-119199121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs554051902	chr1:119199216-119199217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115075387	chr1:119199241-119199242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71586659	chr1:119199250-119199251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1742847	chr1:119199251-119199252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574226094	chr1:119199268-119199269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57880619	chr1:119199278-119199279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544728287	chr1:119199317-119199318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559642534	chr1:119199323-119199324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574407576	chr1:119199333-119199334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562922783	chr1:119199336-119199337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116297556	chr1:119199350-119199351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373240300	chr1:119199370-119199371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551647869	chr1:119199378-119199379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119198000-119199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:119199000-119199200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:119199200-119202200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:119201600-119203000	Enhancers	Fetal Heart	heart
5	chr1:119202200-119203600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:119202600-119204600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:119203000-119203400	Flanking Active TSS	Fetal Heart	heart
8	chr1:119203400-119203800	Enhancers	Fetal Heart	heart
9	chr1:119206200-119207200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:119206800-119207200	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links