Variant report

Variant	nsv946182
Chromosome Location	chr1:120023323-120026272
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	chr1:120018999..120023274-chr1:120024082..120027954,3	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377000935	chr1:120023329-120023330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587690917	chr1:120023351-120023352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202127430	chr1:120023353-120023354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202223291	chr1:120023365-120023366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370172065	chr1:120023373-120023374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587747985	chr1:120023392-120023393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587623951	chr1:120023412-120023413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs911241	chr1:120023450-120023451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs587735199	chr1:120023483-120023484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587625071	chr1:120023520-120023521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587689694	chr1:120023557-120023558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116094883	chr1:120023571-120023572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145416642	chr1:120023633-120023634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147671067	chr1:120023672-120023673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142319878	chr1:120023697-120023698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2011178	chr1:120023701-120023702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs587701488	chr1:120023704-120023705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117305087	chr1:120023705-120023706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587657927	chr1:120023755-120023756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587736012	chr1:120023766-120023767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587594523	chr1:120023797-120023798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587688947	chr1:120023871-120023872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370469388	chr1:120023877-120023878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2011191	chr1:120023888-120023889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145864402	chr1:120023933-120023934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs587678089	chr1:120023960-120023961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148991473	chr1:120023965-120023966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs911244	chr1:120023971-120023972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs587665438	chr1:120024006-120024007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10754397	chr1:120024021-120024022	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs587618449	chr1:120024027-120024028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17023805	chr1:120024078-120024079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs587752944	chr1:120024093-120024094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587620754	chr1:120024114-120024115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587682340	chr1:120024118-120024119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17023809	chr1:120024127-120024128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188949145	chr1:120024137-120024138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112169915	chr1:120024183-120024184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587735963	chr1:120024193-120024194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587776302	chr1:120024199-120024200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192573832	chr1:120024217-120024218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373258120	chr1:120024229-120024230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587718077	chr1:120024239-120024240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140297826	chr1:120024265-120024266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184363608	chr1:120024291-120024292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3862257	chr1:120024321-120024322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587603917	chr1:120024330-120024331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113546671	chr1:120024354-120024355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114087927	chr1:120024362-120024363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188440737	chr1:120024364-120024365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120019000-120026400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:120021000-120025800	Weak transcription	Liver	Liver
3	chr1:120022200-120028200	Enhancers	Placenta	Placenta
4	chr1:120024200-120027200	Enhancers	HSMMtube	muscle
5	chr1:120024400-120026000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:120024400-120027000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:120024400-120027400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:120024600-120028400	Enhancers	Fetal Intestine Large	intestine
9	chr1:120024800-120026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:120024800-120026800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:120024800-120028200	Enhancers	Fetal Heart	heart
12	chr1:120025000-120026800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:120025200-120026400	Enhancers	Pancreas	Pancrea
14	chr1:120025400-120026000	Enhancers	Adipose Nuclei	Adipose
15	chr1:120025400-120026400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:120025400-120026800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:120025600-120026400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:120025600-120027000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:120025800-120026000	Enhancers	Fetal Muscle Leg	muscle
20	chr1:120025800-120026800	Enhancers	Liver	Liver
21	chr1:120026000-120026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:120026000-120026400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:120026000-120026800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:120026000-120030600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:120026000-120034200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:120026200-120026400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:120026200-120027000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:120026200-120027400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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