Variant report

Variant	nsv946292
Chromosome Location	chr1:119827363-119829741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:119828910..119830613-chr1:119909189..119910809,25	MCF-7	breast:
2	chr1:119817719..119818644-chr1:119829058..119829882,3	MCF-7	breast:
3	chr1:119823428..119827293-chr1:119828296..119831084,3	MCF-7	breast:
4	chr1:119829167..119829733-chr1:119859168..119859936,2	MCF-7	breast:
5	chr1:119828739..119830086-chr1:119909537..119910745,9	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587650277	chr1:119827511-119827512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587699681	chr1:119827558-119827559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587605782	chr1:119827601-119827602	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10494223	chr1:119827622-119827623	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116554287	chr1:119827635-119827636	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78847429	chr1:119827660-119827661	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587694745	chr1:119827681-119827682	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4659156	chr1:119827752-119827753	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs587605630	chr1:119827787-119827788	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150882022	chr1:119827815-119827816	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587740211	chr1:119827834-119827835	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs587620138	chr1:119827879-119827880	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587704232	chr1:119827909-119827910	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587738674	chr1:119827912-119827913	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184255804	chr1:119827937-119827938	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587691638	chr1:119828011-119828012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs587751129	chr1:119828046-119828047	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368204667	chr1:119828105-119828106	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs587641184	chr1:119828108-119828109	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs10802086	chr1:119828141-119828142	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs587760728	chr1:119828142-119828143	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs587661995	chr1:119828148-119828149	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs4659000	chr1:119828151-119828152	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs587614968	chr1:119828161-119828162	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs189511660	chr1:119828165-119828166	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4659157	chr1:119828208-119828209	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs587609089	chr1:119828277-119828278	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs12121763	chr1:119828361-119828362	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375800551	chr1:119828401-119828402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587604952	chr1:119828413-119828414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587679570	chr1:119828439-119828440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587736908	chr1:119828484-119828485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587614411	chr1:119828534-119828535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1539188	chr1:119828542-119828543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374028318	chr1:119828587-119828588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17186108	chr1:119828591-119828592	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139664488	chr1:119828617-119828618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587679321	chr1:119828626-119828627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587765358	chr1:119828650-119828651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587635675	chr1:119828664-119828665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587717255	chr1:119828725-119828726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587772419	chr1:119828813-119828814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587675244	chr1:119828831-119828832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375800600	chr1:119828836-119828837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587708808	chr1:119828893-119828894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75160318	chr1:119828904-119828905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372662156	chr1:119828905-119828906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587762698	chr1:119828910-119828911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201334681	chr1:119828965-119828966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199960017	chr1:119828971-119828972	Enhancers 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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119819200-119835200	Weak transcription	Liver	Liver
2	chr1:119822800-119828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:119823000-119828000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:119823000-119840600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:119823200-119827400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:119823200-119827600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:119823200-119827600	Weak transcription	Osteobl	bone
8	chr1:119823200-119827800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:119823200-119828000	Weak transcription	HSMMtube	muscle
10	chr1:119823200-119828000	Weak transcription	NHLF	lung
11	chr1:119823400-119827400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:119823400-119827400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:119823400-119827600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:119823400-119827800	Weak transcription	HSMM	muscle
15	chr1:119823400-119828000	Weak transcription	Adipose Nuclei	Adipose
16	chr1:119823400-119828000	Weak transcription	NH-A	brain
17	chr1:119823400-119833000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:119823600-119827600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:119823600-119827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:119823800-119827400	Weak transcription	HMEC	breast
21	chr1:119824000-119827600	Weak transcription	NHEK	skin
22	chr1:119824200-119827600	Weak transcription	NHDF-Ad	bronchial
23	chr1:119827200-119827600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:119827200-119829200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:119827400-119827600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:119827400-119828800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:119827400-119828800	Enhancers	HMEC	breast
28	chr1:119827400-119829400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:119827600-119828000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:119827600-119828000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:119827600-119828200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:119827600-119828400	Enhancers	NHEK	skin
33	chr1:119827600-119828600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:119827600-119828600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:119827600-119828800	Enhancers	NHDF-Ad	bronchial
36	chr1:119827600-119828800	Enhancers	Osteobl	bone
37	chr1:119827800-119828400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:119827800-119828600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:119827800-119828600	Enhancers	HSMM	muscle
40	chr1:119828000-119828400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:119828000-119828400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:119828000-119828400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:119828000-119828400	Enhancers	Adipose Nuclei	Adipose
44	chr1:119828000-119828400	Enhancers	HSMMtube	muscle
45	chr1:119828000-119828400	Enhancers	NH-A	brain
46	chr1:119828000-119828600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:119828000-119828600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:119828000-119828600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:119828000-119828600	Enhancers	NHLF	lung
50	chr1:119828200-119829200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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