Variant report

Variant	esv3332561
Chromosome Location	chr5:79571946-79574044
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	chr5:79551179..79553580-chr5:79570756..79573445,3	MCF-7	breast:
2	chr5:79549776..79552176-chr5:79572981..79575249,2	K562	blood:

Variant related genes	Relation type
ENSG00000164300	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572010684	chr5:79571988-79571989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6864077	chr5:79572007-79572008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74777167	chr5:79572052-79572053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145587527	chr5:79572063-79572064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs6864237	chr5:79572074-79572075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576422824	chr5:79572104-79572105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561740649	chr5:79572119-79572120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368950133	chr5:79572166-79572167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368985115	chr5:79572282-79572283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185338227	chr5:79572326-79572327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188254255	chr5:79572419-79572420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191876315	chr5:79572427-79572428	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548595955	chr5:79572525-79572526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562225530	chr5:79572552-79572553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372938265	chr5:79572559-79572560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs13361029	chr5:79572589-79572590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547785645	chr5:79572599-79572600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372841877	chr5:79572701-79572702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375561585	chr5:79572702-79572703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200019913	chr5:79572703-79572704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56356584	chr5:79572705-79572706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373494437	chr5:79572706-79572707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs55982415	chr5:79572707-79572708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550292453	chr5:79572711-79572712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569749643	chr5:79572713-79572714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543248689	chr5:79572721-79572722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs70982054	chr5:79572729-79572730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542371861	chr5:79572730-79572731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183725506	chr5:79572764-79572765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529197836	chr5:79572790-79572791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35719174	chr5:79572792-79572793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571973869	chr5:79572798-79572799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372855934	chr5:79572827-79572828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200136724	chr5:79572841-79572842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs70982055	chr5:79572842-79572843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188349490	chr5:79572848-79572849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181769890	chr5:79572850-79572851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13356536	chr5:79572852-79572853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554339445	chr5:79572853-79572854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534623435	chr5:79572854-79572855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557305904	chr5:79572858-79572859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573785202	chr5:79572937-79572938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs57834543	chr5:79572992-79572993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs70982056	chr5:79573014-79573015	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs58101170	chr5:79573030-79573031	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200031682	chr5:79573031-79573032	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542897405	chr5:79573089-79573090	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146504752	chr5:79573123-79573124	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190548348	chr5:79573130-79573131	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181853537	chr5:79573137-79573138	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Schizophrenia	20967226	CNVD
Glioblastoma multiforme	21510904	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79553400-79577800	Weak transcription	Right Atrium	heart
2	chr5:79567800-79580400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:79571600-79572000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:79571800-79572200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr5:79572000-79572600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:79572600-79573200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:79573000-79573400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:79573000-79573400	Enhancers	Fetal Lung	lung
9	chr5:79573000-79573800	Enhancers	Fetal Stomach	stomach
10	chr5:79573200-79573400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:79573200-79574200	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links