Variant report

Variant	nsv519246
Chromosome Location	chr2:55079412-55080623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:55079767-55079916	K562	blood:	n/a	n/a
2	POLR2A	chr2:55080037-55080107	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55077644..55080366-chr2:55082902..55084991,2	K562	blood:
2	chr2:55078067..55080199-chr2:55091204..55092735,2	MCF-7	breast:

Variant related genes	Relation type
EML6	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2033412	chr2:55079412-55079413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13033668	chr2:55079454-55079455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530628342	chr2:55079464-55079465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550697585	chr2:55079477-55079478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115240128	chr2:55079532-55079533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538352372	chr2:55079561-55079562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193056932	chr2:55079622-55079623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564628415	chr2:55079633-55079634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2033411	chr2:55079654-55079655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533918472	chr2:55079657-55079658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547283636	chr2:55079683-55079684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs891745	chr2:55079691-55079692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs71413277	chr2:55079694-55079695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79750189	chr2:55079753-55079754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561929294	chr2:55079785-55079786	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575308315	chr2:55079797-55079798	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs185095550	chr2:55079800-55079801	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs374379055	chr2:55079821-55079822	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs77961825	chr2:55079839-55079840	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs370978587	chr2:55079948-55079949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546617658	chr2:55079951-55079952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188690198	chr2:55079963-55079964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569163117	chr2:55079988-55079989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370844779	chr2:55080020-55080021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34672886	chr2:55080049-55080050	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549380227	chr2:55080061-55080062	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs144751902	chr2:55080089-55080090	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs574642182	chr2:55080106-55080107	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181155088	chr2:55080113-55080114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183773553	chr2:55080116-55080117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571399984	chr2:55080117-55080118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533976992	chr2:55080131-55080132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553753046	chr2:55080132-55080133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567281488	chr2:55080133-55080134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535756924	chr2:55080228-55080229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112136522	chr2:55080254-55080255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574392432	chr2:55080275-55080276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187959635	chr2:55080284-55080285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575422204	chr2:55080290-55080291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182154701	chr2:55080307-55080308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557932956	chr2:55080329-55080330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147872935	chr2:55080358-55080359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540292957	chr2:55080360-55080361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557849254	chr2:55080379-55080380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78565901	chr2:55080384-55080385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187240663	chr2:55080390-55080391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191669667	chr2:55080409-55080410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531974451	chr2:55080420-55080421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551555848	chr2:55080422-55080423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571459551	chr2:55080445-55080446	Weak transcription	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
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
XY gonadal dysgenesis	20685758	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55066800-55084400	Weak transcription	HSMMtube	muscle
2	chr2:55066800-55088800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:55068400-55096200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:55072600-55091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:55073400-55080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:55073400-55093800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:55078000-55082400	Weak transcription	HMEC	breast
10	chr2:55078000-55086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:55078000-55087600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:55078200-55087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
14	chr2:55079400-55082800	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links