Variant report

Variant	nsv946177
Chromosome Location	chr1:119991531-120004718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:119915031..119915964-chr1:119992237..119993475,3	MCF-7	breast:
2	chr1:119992181..119992827-chr1:120018455..120019108,2	MCF-7	breast:
3	chr1:119975044..119977179-chr1:119989940..119992153,2	MCF-7	breast:
4	chr1:119993879..119996617-chr1:119997198..119998785,2	K562	blood:
5	chr1:119971252..119974055-chr1:119989493..119992356,2	MCF-7	breast:
6	chr1:119993879..119996617-chr1:119997198..119998785,2	K562	blood:

Extended variants
information (count: 455 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587645488	chr1:119991534-119991535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6700123	chr1:119991552-119991553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143693901	chr1:119991556-119991557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587660679	chr1:119991572-119991573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190933883	chr1:119991573-119991574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182464893	chr1:119991651-119991652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587669261	chr1:119991702-119991703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587749232	chr1:119991711-119991712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115864837	chr1:119991722-119991723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138308871	chr1:119991729-119991730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372662474	chr1:119991770-119991771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112357513	chr1:119991780-119991781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187029053	chr1:119991814-119991815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17023706	chr1:119991823-119991824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs587705027	chr1:119991842-119991843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146904399	chr1:119991843-119991844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587633710	chr1:119991904-119991905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587713370	chr1:119991913-119991914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139345408	chr1:119991915-119991916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587652324	chr1:119991941-119991942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587701708	chr1:119992055-119992056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117633095	chr1:119992060-119992061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17023709	chr1:119992077-119992078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369926241	chr1:119992086-119992087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587712227	chr1:119992098-119992099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373560690	chr1:119992099-119992100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587665170	chr1:119992100-119992101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587726697	chr1:119992102-119992103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190263858	chr1:119992150-119992151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12039340	chr1:119992162-119992163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs369844630	chr1:119992190-119992191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182941395	chr1:119992196-119992197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116028055	chr1:119992197-119992198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587680505	chr1:119992216-119992217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587760208	chr1:119992237-119992238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587633454	chr1:119992238-119992239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587717629	chr1:119992259-119992260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188725682	chr1:119992297-119992298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587620794	chr1:119992302-119992303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72992926	chr1:119992311-119992312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34673696	chr1:119992327-119992328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587750868	chr1:119992332-119992333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587654902	chr1:119992341-119992342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117663749	chr1:119992342-119992343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587771329	chr1:119992346-119992347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141543309	chr1:119992376-119992377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587726383	chr1:119992378-119992379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587602425	chr1:119992456-119992457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192973724	chr1:119992471-119992472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72992927	chr1:119992481-119992482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119983800-119993200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:119986200-119995800	Weak transcription	Right Atrium	heart
3	chr1:119989800-119993800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:119990400-119993200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:119991400-119992800	Weak transcription	Liver	Liver
6	chr1:119991600-119992600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:119992600-119993000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:119992800-119993000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:119992800-119993400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:119992800-119993600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:119992800-119995600	Enhancers	Liver	Liver
12	chr1:119993000-119993400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:119993000-119994400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:119993000-119995000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:119993000-119995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:119993200-119994000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:119993200-119994400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:119993200-119996600	Enhancers	Fetal Intestine Large	intestine
19	chr1:119993400-119994400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:119993800-119994000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:119993800-119996600	Enhancers	Fetal Intestine Small	intestine
22	chr1:119994400-119996200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:119994600-119995200	Enhancers	HepG2	liver
24	chr1:119994800-119995200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:119994800-119996200	Enhancers	Ovary	ovary
26	chr1:119994800-119996400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:119994800-119996600	Enhancers	HMEC	breast
28	chr1:119995000-119996000	Enhancers	HSMM	muscle
29	chr1:119995000-119996400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:119995000-119996400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:119995000-119996400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:119995000-119996400	Enhancers	NHEK	skin
33	chr1:119995000-119996600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:119995200-119996000	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:119995200-119996200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:119995200-119996200	Enhancers	Adipose Nuclei	Adipose
37	chr1:119995200-119996200	Enhancers	Osteobl	bone
38	chr1:119995200-119996400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:119995200-119996400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:119995400-119996400	Enhancers	NHDF-Ad	bronchial
41	chr1:119995600-119995800	Flanking Active TSS	Liver	Liver
42	chr1:119995600-119996000	Enhancers	Right Ventricle	heart
43	chr1:119995600-119996200	Enhancers	Esophagus	oesophagus
44	chr1:119995600-119996200	Enhancers	Fetal Muscle Leg	muscle
45	chr1:119995600-119996200	Enhancers	Spleen	Spleen
46	chr1:119995800-119996000	Enhancers	Liver	Liver
47	chr1:119995800-119996000	Enhancers	NHLF	lung
48	chr1:119995800-119996200	Enhancers	Right Atrium	heart
49	chr1:119995800-119996400	Enhancers	HSMMtube	muscle
50	chr1:119996000-119996200	Flanking Active TSS	Liver	Liver

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