Variant report

Variant	nsv980973
Chromosome Location	chr5:57659530-57662502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57654875..57656894-chr5:57657997..57659625,2	MCF-7	breast:
2	chr5:57657859..57660556-chr5:57662293..57664197,2	K562	blood:
3	chr5:57660346..57663581-chr5:57663913..57666840,3	MCF-7	breast:
4	chr5:57657859..57660556-chr5:57662293..57664197,2	K562	blood:
5	chr5:57660704..57663602-chr5:57753863..57756016,3	MCF-7	breast:
6	chr5:57662265..57664102-chr5:57743595..57746486,2	MCF-7	breast:
7	chr5:57659417..57661558-chr5:57689608..57691662,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73757772	chr5:57659540-57659541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376705227	chr5:57659546-57659547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564859861	chr5:57659616-57659617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371583759	chr5:57659626-57659627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200206077	chr5:57659635-57659636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577570893	chr5:57659685-57659686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554779528	chr5:57659709-57659710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575998304	chr5:57659716-57659717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543415522	chr5:57659719-57659720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138687444	chr5:57659742-57659743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554453721	chr5:57659744-57659745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73086755	chr5:57659751-57659752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541011420	chr5:57659756-57659757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182062672	chr5:57659770-57659771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113835183	chr5:57659776-57659777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529880324	chr5:57659778-57659779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548236393	chr5:57659783-57659784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186090692	chr5:57659844-57659845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190754589	chr5:57659845-57659846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570503621	chr5:57659853-57659854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76186466	chr5:57659860-57659861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563622974	chr5:57659879-57659880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554197735	chr5:57659880-57659881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114232753	chr5:57659904-57659905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76864387	chr5:57659933-57659934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149353012	chr5:57659968-57659969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376718927	chr5:57659976-57659977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549290163	chr5:57660051-57660052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182543882	chr5:57660098-57660099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10513142	chr5:57660106-57660107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs558521604	chr5:57660154-57660155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs26979	chr5:57660233-57660234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs146316466	chr5:57660253-57660254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529873012	chr5:57660257-57660258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375899249	chr5:57660273-57660274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368524468	chr5:57660321-57660322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372525340	chr5:57660337-57660338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386688333	chr5:57660340-57660341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186645952	chr5:57660356-57660357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73086757	chr5:57660415-57660416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552348089	chr5:57660429-57660430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547285471	chr5:57660494-57660495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547308838	chr5:57660501-57660502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570442398	chr5:57660550-57660551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182878072	chr5:57660567-57660568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548040016	chr5:57660723-57660724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375597400	chr5:57660739-57660740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531333374	chr5:57660754-57660755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566244878	chr5:57660776-57660777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs13174231	chr5:57660783-57660784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57657000-57661600	Weak transcription	Fetal Heart	heart
2	chr5:57658800-57662400	Weak transcription	Adipose Nuclei	Adipose
3	chr5:57661600-57664000	Enhancers	Fetal Heart	heart
4	chr5:57661800-57662600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:57661800-57662600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:57661800-57663000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:57662400-57662800	Enhancers	Adipose Nuclei	Adipose
8	chr5:57662400-57663000	Enhancers	HSMMtube	muscle

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