Variant report

Variant	nsv874171
Chromosome Location	chr2:56545845-56727178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56694865..56697843-chr2:56699153..56701707,2	K562	blood:
2	chr11:78431114..78431635-chr2:56568356..56568877,2	MCF-7	breast:
3	chr2:56591468..56594426-chr2:56642626..56645610,2	MCF-7	breast:
4	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:
5	chr2:56591468..56594426-chr2:56642626..56645610,2	MCF-7	breast:
6	chr2:56584362..56587143-chr2:56589529..56592392,2	K562	blood:
7	chr2:56618904..56620543-chr2:56628115..56630656,2	K562	blood:
8	chr2:56694865..56697843-chr2:56699153..56701707,2	K562	blood:
9	chr2:56584362..56587143-chr2:56589529..56592392,2	K562	blood:
10	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:
11	chr2:56618904..56620543-chr2:56628115..56630656,2	K562	blood:

No data

Extended variants
information (count: 4305 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4305 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2058870	chr2:56545845-56545846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141552946	chr2:56545948-56545949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146171127	chr2:56545982-56545983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551408534	chr2:56546010-56546011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139414592	chr2:56546061-56546062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533873376	chr2:56546066-56546067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74741434	chr2:56546072-56546073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192905550	chr2:56546091-56546092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78100301	chr2:56546092-56546093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373974393	chr2:56546093-56546094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12053439	chr2:56546112-56546113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs78488065	chr2:56546115-56546116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142661847	chr2:56546141-56546142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150573442	chr2:56546145-56546146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185465872	chr2:56546186-56546187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577967562	chr2:56546218-56546219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374658802	chr2:56546234-56546235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560848789	chr2:56546235-56546236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546090731	chr2:56546277-56546278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529514027	chr2:56546320-56546321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543263431	chr2:56546322-56546323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200505766	chr2:56546336-56546337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563035563	chr2:56546342-56546343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116423158	chr2:56546346-56546347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367584920	chr2:56546358-56546359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74523075	chr2:56546361-56546362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77036962	chr2:56546365-56546366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61393257	chr2:56546381-56546382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559613886	chr2:56546387-56546388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79849151	chr2:56546416-56546417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28460708	chr2:56546430-56546431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567555067	chr2:56546436-56546437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536114322	chr2:56546438-56546439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555956557	chr2:56546448-56546449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10183017	chr2:56546483-56546484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537996400	chr2:56546511-56546512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558222893	chr2:56546573-56546574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190337642	chr2:56546600-56546601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60191316	chr2:56546627-56546628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542279934	chr2:56546642-56546643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149806385	chr2:56546652-56546653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144746283	chr2:56546660-56546661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543324800	chr2:56546664-56546665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10206915	chr2:56546671-56546672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182019090	chr2:56546692-56546693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34006021	chr2:56546708-56546709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367984716	chr2:56546720-56546721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35221251	chr2:56546724-56546725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552860753	chr2:56546726-56546727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545167554	chr2:56546746-56546747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Williams Syndrome	20824207	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	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56527400-56547400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:56527600-56561000	Weak transcription	HSMM	muscle
3	chr2:56542800-56547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:56545600-56546000	Weak transcription	Left Ventricle	heart
5	chr2:56546000-56546200	Enhancers	Left Ventricle	heart
6	chr2:56546200-56552800	Weak transcription	Left Ventricle	heart
7	chr2:56550400-56550800	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr2:56551200-56551400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:56551600-56552600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:56552600-56553000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:56552600-56553800	Enhancers	Colon Smooth Muscle	Colon
12	chr2:56552600-56555800	Enhancers	Fetal Heart	heart
13	chr2:56552800-56553400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:56552800-56553400	Enhancers	Left Ventricle	heart
15	chr2:56553000-56553800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:56553400-56560400	Weak transcription	Left Ventricle	heart
17	chr2:56555000-56555400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:56555400-56560800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:56555800-56557800	Weak transcription	Fetal Heart	heart
20	chr2:56556000-56556400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:56556000-56560200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:56556400-56560400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:56557600-56557800	Enhancers	Right Atrium	heart
24	chr2:56557800-56558200	Enhancers	Fetal Heart	heart
25	chr2:56557800-56560400	Weak transcription	Right Atrium	heart
26	chr2:56558200-56561200	Weak transcription	Fetal Heart	heart
27	chr2:56560000-56561600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:56560200-56561200	Enhancers	Psoas Muscle	Psoas
29	chr2:56560200-56563200	Enhancers	Adipose Nuclei	Adipose
30	chr2:56560400-56560600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:56560400-56560600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:56560400-56560800	Enhancers	Left Ventricle	heart
33	chr2:56560400-56561000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:56560400-56561400	Enhancers	Right Atrium	heart
35	chr2:56560400-56562000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:56560400-56562000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:56560400-56562200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:56560400-56562400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:56560600-56561800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:56560600-56561800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:56560600-56562000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:56560600-56562400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:56560600-56575400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:56560800-56561400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr2:56560800-56561600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:56560800-56562200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:56560800-56562800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:56560800-56563400	Weak transcription	Left Ventricle	heart
49	chr2:56561000-56561200	Enhancers	HSMM	muscle
50	chr2:56561000-56562000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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