Variant report

Variant	nsv933898
Chromosome Location	chr1:94471453-94472996
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	chr1:94471999..94474175-chr1:94483788..94486677,2	MCF-7	breast:
2	chr1:94468902..94471857-chr1:94472562..94475051,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198691	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570972248	chr1:94471461-94471462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4147862	chr1:94471519-94471520	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs192277183	chr1:94471539-94471540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568564884	chr1:94471598-94471599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535911776	chr1:94471604-94471605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111411940	chr1:94471606-94471607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3789376	chr1:94471640-94471641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183804255	chr1:94471656-94471657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188336778	chr1:94471668-94471669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558018779	chr1:94471701-94471702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572731600	chr1:94471706-94471707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113587794	chr1:94471718-94471719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575968112	chr1:94471747-94471748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573408797	chr1:94471762-94471763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543854259	chr1:94471822-94471823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4147902	chr1:94471836-94471837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs398049465	chr1:94471837-94471838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562364960	chr1:94471898-94471899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532904841	chr1:94471923-94471924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145345131	chr1:94471946-94471947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4147861	chr1:94471948-94471949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539918010	chr1:94471956-94471957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547205813	chr1:94471995-94471996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377293914	chr1:94472075-94472076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571761998	chr1:94472084-94472085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112028448	chr1:94472089-94472090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74102065	chr1:94472111-94472112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551019998	chr1:94472129-94472130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569193392	chr1:94472137-94472138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539801777	chr1:94472223-94472224	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6541409	chr1:94472242-94472243	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111482495	chr1:94472245-94472246	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs3789377	chr1:94472275-94472276	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192221898	chr1:94472295-94472296	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs4147860	chr1:94472368-94472369	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141085935	chr1:94472371-94472372	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150279850	chr1:94472390-94472391	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375835812	chr1:94472467-94472468	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557026	chr1:94472489-94472490	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs3789379	chr1:94472520-94472521	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs112900911	chr1:94472592-94472593	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184388500	chr1:94472606-94472607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376008366	chr1:94472627-94472628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115569491	chr1:94472654-94472655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs3789380	chr1:94472679-94472680	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs3789381	chr1:94472684-94472685	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554094297	chr1:94472727-94472728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74754582	chr1:94472738-94472739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189318308	chr1:94472754-94472755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111696022	chr1:94472768-94472769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94458800-94477000	Weak transcription	Right Atrium	heart
2	chr1:94464000-94472200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:94468200-94476400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94471000-94474800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:94471200-94476200	Weak transcription	Lung	lung
6	chr1:94471200-94480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:94471800-94472400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:94472000-94472400	Enhancers	Psoas Muscle	Psoas
9	chr1:94472200-94472400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:94472200-94472600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:94472400-94476200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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