Variant report

Variant	esv2277586
Chromosome Location	chr2:99505561-99505989
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	chr2:99505531..99508517-chr2:99513277..99515165,2	MCF-7	breast:
2	chr2:99505976..99506931-chr5:140579157..140579893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197479	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557785363	chr2:99505598-99505599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186306672	chr2:99505601-99505602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544112700	chr2:99505606-99505607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563902901	chr2:99505607-99505608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59878807	chr2:99505622-99505623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs118042952	chr2:99505629-99505630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549981575	chr2:99505660-99505661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6707522	chr2:99505671-99505672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528573050	chr2:99505678-99505679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117773472	chr2:99505682-99505683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6752025	chr2:99505699-99505700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs60732953	chr2:99505706-99505707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6737330	chr2:99505736-99505737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6752036	chr2:99505740-99505741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368483962	chr2:99505748-99505749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201645581	chr2:99505749-99505750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533085312	chr2:99505764-99505765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6707650	chr2:99505770-99505771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6752132	chr2:99505776-99505777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549685754	chr2:99505779-99505780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569579776	chr2:99505780-99505781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535647318	chr2:99505784-99505785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144747787	chr2:99505787-99505788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148539980	chr2:99505799-99505800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113340041	chr2:99505803-99505804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557822158	chr2:99505807-99505808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577693231	chr2:99505842-99505843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537018555	chr2:99505860-99505861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557705662	chr2:99505867-99505868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368172432	chr2:99505879-99505880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574212582	chr2:99505887-99505888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544631821	chr2:99505898-99505899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191065088	chr2:99505925-99505926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4553869	chr2:99505940-99505941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183959340	chr2:99505954-99505955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369361440	chr2:99505963-99505964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186904387	chr2:99505967-99505968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	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
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99497800-99505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:99500000-99517000	Weak transcription	Gastric	stomach

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