Variant report

Variant	esv3340221
Chromosome Location	chr1:211391629-211393677
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	chr1:210545388..210547697-chr1:211390975..211392895,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200972	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576698412	chr1:211391653-211391654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545377015	chr1:211391669-211391670	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548027755	chr1:211391681-211391682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149115530	chr1:211391691-211391692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs202185821	chr1:211391702-211391703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547497101	chr1:211391703-211391704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551910114	chr1:211391713-211391714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143162278	chr1:211391757-211391758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559884084	chr1:211391944-211391945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537711267	chr1:211392001-211392002	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556073575	chr1:211392110-211392111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151143692	chr1:211392178-211392179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534598937	chr1:211392191-211392192	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552737506	chr1:211392194-211392195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577623114	chr1:211392262-211392263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544789668	chr1:211392285-211392286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529078013	chr1:211392338-211392339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548796597	chr1:211392389-211392390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556704960	chr1:211392392-211392393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575120667	chr1:211392408-211392409	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58846544	chr1:211392422-211392423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369563267	chr1:211392424-211392425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs61233236	chr1:211392461-211392462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs60195382	chr1:211392465-211392466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs28536745	chr1:211392467-211392468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200101347	chr1:211392469-211392470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183763203	chr1:211392539-211392540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12732076	chr1:211392599-211392600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188687631	chr1:211392603-211392604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559834660	chr1:211392605-211392606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35852214	chr1:211392635-211392636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs67786348	chr1:211392636-211392637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542442806	chr1:211392679-211392680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560835216	chr1:211392727-211392728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528416758	chr1:211392762-211392763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569121527	chr1:211392769-211392770	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs193287827	chr1:211392783-211392784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370005854	chr1:211392829-211392830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537795730	chr1:211392839-211392840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12071464	chr1:211392863-211392864	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140088457	chr1:211392884-211392885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	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
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
Glioblastoma multiforme	17002787	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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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