Variant report

Variant	esv2551121
Chromosome Location	chr1:221789591-221790907
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	chr1:221790481..221791096-chr3:68162539..68163265,2	MCF-7	breast:
2	chr1:221782617..221784755-chr1:221788045..221789610,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184540571	chr1:221789597-221789598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376419910	chr1:221789627-221789628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557870676	chr1:221789712-221789713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74145380	chr1:221789758-221789759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534373738	chr1:221789814-221789815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555926570	chr1:221789819-221789820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17010395	chr1:221789835-221789836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs540885451	chr1:221789925-221789926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189295134	chr1:221789939-221789940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140666876	chr1:221789941-221789942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533463101	chr1:221790000-221790001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561014974	chr1:221790052-221790053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17010397	chr1:221790067-221790068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560402197	chr1:221790077-221790078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181962457	chr1:221790088-221790089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185982555	chr1:221790103-221790104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116341724	chr1:221790107-221790108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367629589	chr1:221790111-221790112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550522770	chr1:221790145-221790146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568986581	chr1:221790202-221790203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539361803	chr1:221790280-221790281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190903078	chr1:221790281-221790282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181246161	chr1:221790289-221790290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144733661	chr1:221790311-221790312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555765178	chr1:221790373-221790374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115053290	chr1:221790399-221790400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544648473	chr1:221790401-221790402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556492164	chr1:221790442-221790443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549686318	chr1:221790446-221790447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578155472	chr1:221790448-221790449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569365485	chr1:221790482-221790483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545266057	chr1:221790498-221790499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560439121	chr1:221790510-221790511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186516985	chr1:221790531-221790532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190491929	chr1:221790569-221790570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35177447	chr1:221790616-221790617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36090035	chr1:221790623-221790624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78269190	chr1:221790656-221790657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73117573	chr1:221790721-221790722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574366875	chr1:221790757-221790758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541509754	chr1:221790763-221790764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12142693	chr1:221790778-221790779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182726307	chr1:221790792-221790793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551587214	chr1:221790826-221790827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527419606	chr1:221790828-221790829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566789485	chr1:221790868-221790869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185906001	chr1:221790893-221790894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221786200-221791800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221786200-221794200	Weak transcription	Psoas Muscle	Psoas
3	chr1:221789000-221791400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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