Variant report

Variant	nsv1013526
Chromosome Location	chr2:57426538-57461032
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	chr2:56410837..56411593-chr2:57429009..57429668,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055813	chromatin interactions

Extended variants
information (count: 889 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573880128	chr2:57426581-57426582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563197565	chr2:57426601-57426602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72813214	chr2:57426608-57426609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562525580	chr2:57426610-57426611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531447665	chr2:57426616-57426617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13408220	chr2:57426628-57426629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71393565	chr2:57426630-57426631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544959160	chr2:57426631-57426632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35112327	chr2:57426644-57426645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551940911	chr2:57426681-57426682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564703874	chr2:57426683-57426684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112203862	chr2:57426698-57426699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75368300	chr2:57426699-57426700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138017833	chr2:57426754-57426755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529406692	chr2:57426772-57426773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191334279	chr2:57426782-57426783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79303901	chr2:57426789-57426790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182851566	chr2:57426815-57426816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558267964	chr2:57426822-57426823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571544115	chr2:57426830-57426831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149171707	chr2:57426838-57426839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72813216	chr2:57426841-57426842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559481191	chr2:57426868-57426869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555192417	chr2:57426876-57426877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10189069	chr2:57426933-57426934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185528385	chr2:57426953-57426954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556413915	chr2:57426956-57426957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143281344	chr2:57426957-57426958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528243123	chr2:57426979-57426980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548717522	chr2:57426980-57426981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576332077	chr2:57426986-57426987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113650684	chr2:57426992-57426993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76318409	chr2:57426995-57426996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565031892	chr2:57426998-57426999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527285539	chr2:57427037-57427038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77354375	chr2:57427047-57427048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190331901	chr2:57427074-57427075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529565213	chr2:57427093-57427094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549295768	chr2:57427103-57427104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569094243	chr2:57427127-57427128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575117103	chr2:57427129-57427130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182888952	chr2:57427131-57427132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148309478	chr2:57427151-57427152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571720059	chr2:57427152-57427153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533898246	chr2:57427153-57427154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72813217	chr2:57427154-57427155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116155869	chr2:57427161-57427162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115029291	chr2:57427166-57427167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141953724	chr2:57427189-57427190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576294781	chr2:57427201-57427202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57423000-57427600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:57426000-57427000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:57426000-57427800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:57426200-57426800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:57426600-57427800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:57427600-57427800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:57431400-57432000	Enhancers	Fetal Kidney	kidney
8	chr2:57431400-57433000	Enhancers	Fetal Intestine Large	intestine
9	chr2:57431400-57433400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:57431600-57431800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:57431800-57433200	Enhancers	Fetal Heart	heart
12	chr2:57433000-57433600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:57433200-57437400	Weak transcription	Fetal Heart	heart
14	chr2:57433400-57436400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:57433600-57433800	Enhancers	Fetal Intestine Large	intestine
16	chr2:57436400-57437200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:57437400-57439000	Enhancers	Fetal Heart	heart
18	chr2:57438000-57438600	Weak transcription	Left Ventricle	heart
19	chr2:57438600-57438800	Enhancers	Left Ventricle	heart
20	chr2:57438800-57444000	Weak transcription	Left Ventricle	heart
21	chr2:57439000-57439200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:57439000-57441400	Weak transcription	Fetal Heart	heart
23	chr2:57441400-57442000	Enhancers	Fetal Heart	heart
24	chr2:57443800-57445600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:57444000-57445600	Enhancers	Left Ventricle	heart
26	chr2:57444000-57445800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:57444000-57445800	ZNF genes & repeats	Pancreas	Pancrea
28	chr2:57444200-57445800	Enhancers	Right Ventricle	heart
29	chr2:57445400-57445800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:57458400-57459200	Active TSS	H9 Cell Line	embryonic stem cell

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