Variant report

Variant	esv2625579
Chromosome Location	chr2:86912135-86913423
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	chr2:86849181..86850996-chr2:86912728..86914942,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239305	chromatin interactions
ENSG00000249884	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369734253	chr2:86912138-86912139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571136347	chr2:86912160-86912161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539369400	chr2:86912161-86912162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557364309	chr2:86912182-86912183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13413566	chr2:86912247-86912248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs80150054	chr2:86912270-86912271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546259002	chr2:86912328-86912329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578127211	chr2:86912395-86912396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572969221	chr2:86912436-86912437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540312619	chr2:86912496-86912497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558937334	chr2:86912497-86912498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577166128	chr2:86912552-86912553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142927136	chr2:86912564-86912565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191192609	chr2:86912605-86912606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530725927	chr2:86912608-86912609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75429125	chr2:86912616-86912617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560979301	chr2:86912621-86912622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528226643	chr2:86912623-86912624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546376963	chr2:86912663-86912664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571264718	chr2:86912703-86912704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531974043	chr2:86912729-86912730	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs182282656	chr2:86912741-86912742	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs116138180	chr2:86912775-86912776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs34894017	chr2:86912826-86912827	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs536465093	chr2:86912861-86912862	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs185427235	chr2:86912891-86912892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563654587	chr2:86912893-86912894	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371517547	chr2:86912956-86912957	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs566700922	chr2:86912957-86912958	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534072824	chr2:86912978-86912979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs574880611	chr2:86913044-86913045	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565385365	chr2:86913271-86913272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs191122929	chr2:86913279-86913280	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs542246508	chr2:86913307-86913308	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs183133937	chr2:86913400-86913401	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs537801768	chr2:86913412-86913413	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86901400-86916800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:86903000-86919600	Weak transcription	Placenta	Placenta

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