Variant report

Variant	nsv582095
Chromosome Location	chr2:58012833-58062220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58025264..58027443-chr2:58030430..58032051,2	MCF-7	breast:
2	chr2:58035263..58037581-chr2:58040221..58042453,2	K562	blood:
3	chr2:58035263..58037581-chr2:58040221..58042453,2	K562	blood:
4	chr2:58025264..58027443-chr2:58030430..58032051,2	MCF-7	breast:

Extended variants
information (count: 817 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1568452	chr2:58012833-58012834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370563878	chr2:58012860-58012861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561990832	chr2:58012868-58012869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188096878	chr2:58012893-58012894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547787239	chr2:58012946-58012947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11892251	chr2:58012953-58012954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533462080	chr2:58012992-58012993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551623549	chr2:58013035-58013036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148294809	chr2:58013037-58013038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537273911	chr2:58013058-58013059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555608948	chr2:58013121-58013122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193087776	chr2:58013223-58013224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372124297	chr2:58019600-58019601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76704413	chr2:58019616-58019617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77472369	chr2:58019688-58019689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537399702	chr2:58019691-58019692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145634424	chr2:58019853-58019854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574390475	chr2:58019858-58019859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181632790	chr2:58019895-58019896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1589407	chr2:58019903-58019904	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs377348720	chr2:58019947-58019948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368834310	chr2:58020004-58020005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572178618	chr2:58020021-58020022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545944814	chr2:58020029-58020030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546038008	chr2:58020054-58020055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564333421	chr2:58020106-58020107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531641581	chr2:58020126-58020127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543789349	chr2:58020203-58020204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562107140	chr2:58020204-58020205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529307067	chr2:58020206-58020207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547849611	chr2:58020212-58020213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373008308	chr2:58020374-58020375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184701889	chr2:58020398-58020399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543077692	chr2:58020433-58020434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533307248	chr2:58020450-58020451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370694377	chr2:58020456-58020457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138265227	chr2:58020471-58020472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373240369	chr2:58020482-58020483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189164092	chr2:58020493-58020494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76043823	chr2:58020528-58020529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537338153	chr2:58020609-58020610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549300016	chr2:58020613-58020614	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568025896	chr2:58020626-58020627	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535125721	chr2:58020672-58020673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553796945	chr2:58020713-58020714	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs77016119	chr2:58020762-58020763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs143307957	chr2:58020780-58020781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539595981	chr2:58020786-58020787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs537188239	chr2:58020787-58020788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148025842	chr2:58020806-58020807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58011600-58013000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:58013000-58013400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:58019600-58022800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:58019800-58020000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:58020400-58022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:58020600-58022000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:58020800-58021200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:58021200-58022400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:58022000-58026600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:58022400-58022600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:58022400-58023000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:58022400-58023800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:58022400-58023800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:58022400-58023800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:58022600-58023000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:58022600-58023000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:58022600-58023400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:58022600-58023600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:58022600-58024200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:58022600-58024200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:58022600-58024600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:58022800-58023000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:58023000-58023400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:58023000-58025800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:58023000-58025800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:58023400-58023600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:58023400-58024200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr2:58023400-58024200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:58023600-58023800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:58023600-58025800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:58023800-58024000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:58023800-58024200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr2:58023800-58024200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:58023800-58024200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr2:58023800-58024200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr2:58023800-58024200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:58024000-58024200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:58024200-58024800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:58024200-58025200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:58024200-58025200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:58024200-58025200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:58024800-58025400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:58025200-58025400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:58025400-58026200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr2:58025400-58026400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr2:58025800-58026200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:58025800-58026200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:58025800-58026600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr2:58026200-58026400	ZNF genes & repeats	Psoas Muscle	Psoas
50	chr2:58032200-58032400	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links