Variant report

Variant	nsv1003388
Chromosome Location	chr2:57364534-57394902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56409694..56412486-chr2:57365790..57369711,3	MCF-7	breast:
2	chr2:57037052..57037562-chr2:57367504..57368073,2	MCF-7	breast:
3	chr2:57361348..57363716-chr2:57369753..57372552,2	K562	blood:
4	chr2:57359385..57360901-chr2:57363055..57366048,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233251	chromatin interactions
ENSG00000055813	chromatin interactions

Extended variants
information (count: 520 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548464159	chr2:57365790-57365791	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568830361	chr2:57365809-57365810	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs562053701	chr2:57365811-57365812	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs530965504	chr2:57365815-57365816	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550783924	chr2:57365833-57365834	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs183123975	chr2:57365863-57365864	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539533825	chr2:57365911-57365912	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547098941	chr2:57365926-57365927	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537469406	chr2:57365950-57365951	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188357815	chr2:57365988-57365989	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535890691	chr2:57366045-57366046	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs13016605	chr2:57366048-57366049	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575610440	chr2:57366107-57366108	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs191953797	chr2:57366123-57366124	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs144218687	chr2:57366142-57366143	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369686310	chr2:57366143-57366144	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs72934890	chr2:57366157-57366158	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs115534403	chr2:57366169-57366170	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs147497816	chr2:57366238-57366239	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187548872	chr2:57366245-57366246	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192693653	chr2:57366247-57366248	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs73940890	chr2:57366257-57366258	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377490388	chr2:57366300-57366301	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534359673	chr2:57366331-57366332	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562016687	chr2:57366364-57366365	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs184437811	chr2:57366374-57366375	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551290759	chr2:57366393-57366394	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs12998924	chr2:57366415-57366416	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371141738	chr2:57366424-57366425	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533619944	chr2:57366465-57366466	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546767373	chr2:57366492-57366493	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372941316	chr2:57366568-57366569	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs76061229	chr2:57366606-57366607	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs17189361	chr2:57366620-57366621	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs529254133	chr2:57366630-57366631	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs189316374	chr2:57366657-57366658	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543141245	chr2:57366708-57366709	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs553930457	chr2:57366717-57366718	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569311180	chr2:57366759-57366760	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs563000353	chr2:57366780-57366781	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs76323945	chr2:57366782-57366783	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs34113562	chr2:57366789-57366790	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs538118702	chr2:57366801-57366802	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs79864684	chr2:57366883-57366884	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs571346499	chr2:57366889-57366890	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564195175	chr2:57366914-57366915	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181207004	chr2:57366921-57366922	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs17048687	chr2:57366948-57366949	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs144273426	chr2:57366949-57366950	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs150725296	chr2:57366964-57366965	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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	17122850	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57367800-57369200	Enhancers	Primary hematopoietic stem cells	blood
2	chr2:57369800-57370400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:57383000-57383400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:57383200-57383800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:57383200-57384000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:57383600-57384400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:57383800-57384000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:57383800-57384200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr2:57384000-57385000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:57385000-57385400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:57387600-57389600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:57388000-57389400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:57389400-57390400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:57390400-57392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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