Variant report

Variant	nsv1004449
Chromosome Location	chr2:56538460-56715861
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56535064..56538835-chr2:56538969..56542795,4	K562	blood:
2	chr2:56618904..56620543-chr2:56628115..56630656,2	K562	blood:
3	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:
4	chr2:56584362..56587143-chr2:56589529..56592392,2	K562	blood:
5	chr11:78431114..78431635-chr2:56568356..56568877,2	MCF-7	breast:
6	chr2:56694865..56697843-chr2:56699153..56701707,2	K562	blood:
7	chr2:56591468..56594426-chr2:56642626..56645610,2	MCF-7	breast:
8	chr2:56591468..56594426-chr2:56642626..56645610,2	MCF-7	breast:
9	chr2:56535064..56538835-chr2:56538969..56542795,4	K562	blood:
10	chr2:56694865..56697843-chr2:56699153..56701707,2	K562	blood:
11	chr2:56584362..56587143-chr2:56589529..56592392,2	K562	blood:
12	chr2:56618904..56620543-chr2:56628115..56630656,2	K562	blood:
13	chr2:56542595..56543142-chr4:88834329..88835129,2	MCF-7	breast:

No data

Extended variants
information (count: 4631 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4631 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7582740	chr2:56538460-56538461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143481547	chr2:56538462-56538463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190599717	chr2:56538484-56538485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146737784	chr2:56538500-56538501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530855799	chr2:56538568-56538569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573975395	chr2:56538586-56538587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542924700	chr2:56538593-56538594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371170877	chr2:56538594-56538595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7596900	chr2:56538595-56538596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182255040	chr2:56538603-56538604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533158481	chr2:56538644-56538645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185999787	chr2:56538666-56538667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139289841	chr2:56538683-56538684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535075185	chr2:56538703-56538704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548588393	chr2:56538731-56538732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568332092	chr2:56538749-56538750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537784784	chr2:56538772-56538773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs214036	chr2:56538780-56538781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs577066761	chr2:56538806-56538807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144324757	chr2:56538830-56538831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146582513	chr2:56538854-56538855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572607408	chr2:56538862-56538863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541530355	chr2:56538865-56538866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561738922	chr2:56538888-56538889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575115546	chr2:56538930-56538931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544542125	chr2:56538939-56538940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13418444	chr2:56538964-56538965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375747620	chr2:56538965-56538966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62167335	chr2:56538991-56538992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556282090	chr2:56539016-56539017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77428481	chr2:56539026-56539027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560362199	chr2:56539086-56539087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376964741	chr2:56539092-56539093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190872740	chr2:56539125-56539126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13421201	chr2:56539153-56539154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537044184	chr2:56539154-56539155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551296663	chr2:56539158-56539159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565375325	chr2:56539177-56539178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570817503	chr2:56539208-56539209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114880004	chr2:56539225-56539226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62167336	chr2:56539228-56539229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150194351	chr2:56539229-56539230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13421464	chr2:56539230-56539231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs13395732	chr2:56539238-56539239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs112555386	chr2:56539250-56539251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369642972	chr2:56539259-56539260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555166435	chr2:56539305-56539306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367886168	chr2:56539341-56539342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4141565	chr2:56539411-56539412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543874727	chr2:56539427-56539428	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:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56527400-56540600	Weak transcription	Left Ventricle	heart
2	chr2:56527400-56547400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:56527600-56561000	Weak transcription	HSMM	muscle
4	chr2:56537000-56541200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:56537400-56540400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:56537600-56540600	Weak transcription	Psoas Muscle	Psoas
7	chr2:56537800-56540600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:56537800-56541600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:56538400-56538600	Enhancers	Adipose Nuclei	Adipose
10	chr2:56538600-56540400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:56539000-56539200	Enhancers	Right Atrium	heart
12	chr2:56539000-56539200	Enhancers	Right Ventricle	heart
13	chr2:56540000-56540800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:56540000-56540800	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:56540000-56540800	Weak transcription	Right Atrium	heart
16	chr2:56540000-56541400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:56540400-56542000	Enhancers	Fetal Intestine Large	intestine
18	chr2:56540400-56543400	Enhancers	Adipose Nuclei	Adipose
19	chr2:56540600-56541200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:56540600-56541400	Enhancers	Left Ventricle	heart
21	chr2:56540600-56541600	Enhancers	Fetal Intestine Small	intestine
22	chr2:56540600-56542000	Enhancers	Fetal Muscle Leg	muscle
23	chr2:56540600-56542400	Enhancers	Psoas Muscle	Psoas
24	chr2:56540800-56541200	Enhancers	Lung	lung
25	chr2:56540800-56542000	Enhancers	Right Atrium	heart
26	chr2:56541000-56541400	Enhancers	Brain Angular Gyrus	brain
27	chr2:56541000-56541400	Enhancers	Colonic Mucosa	Colon
28	chr2:56541000-56541400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:56541000-56542000	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:56541000-56542000	Enhancers	Right Ventricle	heart
31	chr2:56541200-56541600	Enhancers	Colon Smooth Muscle	Colon
32	chr2:56541200-56542800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:56541400-56545400	Weak transcription	Left Ventricle	heart
34	chr2:56541600-56543400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:56542000-56542600	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:56542400-56542800	Weak transcription	Psoas Muscle	Psoas
37	chr2:56542600-56543400	Enhancers	Fetal Muscle Leg	muscle
38	chr2:56542800-56543200	Enhancers	Psoas Muscle	Psoas
39	chr2:56542800-56547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:56545400-56545600	Enhancers	Left Ventricle	heart
41	chr2:56545600-56546000	Weak transcription	Left Ventricle	heart
42	chr2:56546000-56546200	Enhancers	Left Ventricle	heart
43	chr2:56546200-56552800	Weak transcription	Left Ventricle	heart
44	chr2:56550400-56550800	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr2:56551200-56551400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:56551600-56552600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:56552600-56553000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:56552600-56553800	Enhancers	Colon Smooth Muscle	Colon
49	chr2:56552600-56555800	Enhancers	Fetal Heart	heart
50	chr2:56552800-56553400	Enhancers	Brain Inferior Temporal Lobe	brain

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