Variant report

Variant	nsv598746
Chromosome Location	chr5:79398394-79402443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79402314..79404857-chr5:79408455..79410361,2	MCF-7	breast:
2	chr5:79400700..79403257-chr5:79403572..79405764,2	K562	blood:
3	chr5:79397094..79398973-chr5:79550751..79553647,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164300	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2434292	chr5:79398394-79398395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537255426	chr5:79398395-79398396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2438626	chr5:79398415-79398416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs574006133	chr5:79398423-79398424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369388795	chr5:79398428-79398429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542970225	chr5:79398433-79398434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559374741	chr5:79398434-79398435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572913978	chr5:79398451-79398452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544772130	chr5:79398454-79398455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564993532	chr5:79398455-79398456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2434293	chr5:79398459-79398460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192230997	chr5:79398461-79398462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs80203739	chr5:79398463-79398464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148446673	chr5:79398567-79398568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549301902	chr5:79398570-79398571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561148060	chr5:79398593-79398594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150657092	chr5:79398594-79398595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13158559	chr5:79398598-79398599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189589691	chr5:79398601-79398602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571727925	chr5:79398616-79398617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2434294	chr5:79398618-79398619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2434295	chr5:79398621-79398622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573915154	chr5:79398625-79398626	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536539211	chr5:79398638-79398639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553349087	chr5:79398663-79398664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs180716542	chr5:79398695-79398696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544995861	chr5:79398697-79398698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs6865426	chr5:79398709-79398710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2438625	chr5:79398724-79398725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs75900643	chr5:79398765-79398766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139992787	chr5:79398817-79398818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs117916193	chr5:79398818-79398819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74841597	chr5:79398852-79398853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35670694	chr5:79398887-79398888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2099651	chr5:79398911-79398912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs528435519	chr5:79398938-79398939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534204178	chr5:79398985-79398986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571922015	chr5:79398987-79398988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551772857	chr5:79398990-79398991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571577727	chr5:79398992-79398993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146872751	chr5:79398997-79398998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548103804	chr5:79399000-79399001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139542060	chr5:79399005-79399006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34471349	chr5:79399017-79399018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2405099	chr5:79399018-79399019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2405100	chr5:79399022-79399023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566785520	chr5:79399048-79399049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538229781	chr5:79399124-79399125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558507093	chr5:79399147-79399148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370216368	chr5:79399191-79399192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79379400-79400600	Weak transcription	Left Ventricle	heart
2	chr5:79388000-79405000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:79389400-79412200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:79389600-79398400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:79389800-79411800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:79390000-79401200	Weak transcription	Pancreas	Pancrea
7	chr5:79390600-79405400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:79390800-79402000	Weak transcription	Right Atrium	heart
9	chr5:79393400-79410800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:79393600-79399000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:79393800-79405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:79395200-79398400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:79395200-79399200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:79395200-79401800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:79395800-79400400	Weak transcription	HepG2	liver
16	chr5:79396000-79406200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:79397400-79404000	Enhancers	Fetal Thymus	thymus
18	chr5:79397600-79398600	Enhancers	GM12878-XiMat	blood
19	chr5:79397600-79402000	Enhancers	Primary T cells from cord blood	blood
20	chr5:79397600-79402400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr5:79397800-79403000	Enhancers	Thymus	Thymus
22	chr5:79398000-79402800	Enhancers	Fetal Heart	heart
23	chr5:79398400-79398600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:79398400-79398600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:79398400-79399800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr5:79398400-79403000	Enhancers	Dnd41	blood
27	chr5:79398600-79398800	Enhancers	Esophagus	oesophagus
28	chr5:79398600-79405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:79399000-79399400	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:79399000-79399400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr5:79399000-79399600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:79399400-79411000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:79399800-79400200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:79400200-79402000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr5:79400400-79401000	Enhancers	Primary B cells from peripheral blood	blood
36	chr5:79400400-79401400	Enhancers	Primary B cells from cord blood	blood
37	chr5:79400400-79401800	Enhancers	HepG2	liver
38	chr5:79400600-79401200	Enhancers	Left Ventricle	heart
39	chr5:79400800-79401200	Enhancers	Right Ventricle	heart
40	chr5:79401200-79401600	Weak transcription	Left Ventricle	heart
41	chr5:79401200-79402600	Enhancers	Pancreas	Pancrea
42	chr5:79401200-79405600	Weak transcription	Right Ventricle	heart
43	chr5:79401400-79402000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:79401400-79402400	Enhancers	Fetal Intestine Large	intestine
45	chr5:79401400-79402400	Enhancers	Fetal Intestine Small	intestine
46	chr5:79401400-79405600	Weak transcription	Primary B cells from cord blood	blood
47	chr5:79401600-79402400	Enhancers	Left Ventricle	heart
48	chr5:79401600-79402800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:79401800-79402200	Enhancers	Fetal Muscle Leg	muscle
50	chr5:79401800-79402200	Enhancers	Placenta	Placenta

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