Variant report

Variant	nsv527551
Chromosome Location	chr2:58311684-58317208
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:58259305..58261530-chr2:58312995..58315728,2	MCF-7	breast:
2	chr2:58310331..58313102-chr2:58313255..58316210,2	K562	blood:
3	chr2:58286636..58288620-chr2:58310903..58313169,2	K562	blood:
4	chr2:58281941..58283918-chr2:58310687..58313540,2	K562	blood:
5	chr2:58307014..58309268-chr2:58311845..58314843,2	K562	blood:
6	chr2:58311779..58314572-chr2:58317224..58318941,2	MCF-7	breast:
7	chr2:58304898..58306855-chr2:58308067..58311851,3	K562	blood:
8	chr2:58273852..58275893-chr2:58312639..58315544,2	K562	blood:
9	chr2:58310331..58313102-chr2:58313255..58316210,2	K562	blood:
10	chr2:58272597..58275548-chr2:58309759..58311763,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000028116	chromatin interactions

Extended variants
information (count: 234 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12620940	chr2:58311684-58311685	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147267906	chr2:58311685-58311686	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77808574	chr2:58311750-58311751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535415828	chr2:58311772-58311773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547769502	chr2:58311781-58311782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565978716	chr2:58311788-58311789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201035917	chr2:58311814-58311815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558233926	chr2:58311818-58311819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527569487	chr2:58311829-58311830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58470176	chr2:58311865-58311866	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs367931194	chr2:58311876-58311877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556030689	chr2:58311901-58311902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547716246	chr2:58311913-58311914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112397097	chr2:58311958-58311959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374837828	chr2:58311993-58311994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574253387	chr2:58311995-58311996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560736676	chr2:58312003-58312004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201008158	chr2:58312011-58312012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189408545	chr2:58312051-58312052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529796004	chr2:58312053-58312054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200065516	chr2:58312096-58312097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372336387	chr2:58312105-58312106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376355288	chr2:58312118-58312119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34224897	chr2:58312151-58312152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71394407	chr2:58312166-58312167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545417839	chr2:58312239-58312240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374392502	chr2:58312263-58312264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139169227	chr2:58312285-58312286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531340485	chr2:58312313-58312314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192683063	chr2:58312339-58312340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561598982	chr2:58312372-58312373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566994012	chr2:58312383-58312384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529175788	chr2:58312399-58312400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75018627	chr2:58312433-58312434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs534389899	chr2:58312436-58312437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565965774	chr2:58312523-58312524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538742905	chr2:58312532-58312533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551814424	chr2:58312534-58312535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555815301	chr2:58312569-58312570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565701336	chr2:58312600-58312601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537570456	chr2:58312626-58312627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371778114	chr2:58312630-58312631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555993792	chr2:58312696-58312697	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574112030	chr2:58312811-58312812	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143622417	chr2:58312822-58312823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150572642	chr2:58312825-58312826	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs578209071	chr2:58312837-58312838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184921442	chr2:58312852-58312853	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189295916	chr2:58312882-58312883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180921548	chr2:58312902-58312903	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
5	chr2:58275800-58316800	Weak transcription	HMEC	breast
6	chr2:58279000-58319000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:58279400-58315600	Weak transcription	Dnd41	blood
8	chr2:58282600-58350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:58284200-58317600	Weak transcription	HepG2	liver
10	chr2:58284400-58325000	Weak transcription	NHEK	skin
11	chr2:58285200-58317000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:58286200-58317600	Weak transcription	K562	blood
13	chr2:58286400-58317600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:58287200-58315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:58290400-58315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:58291200-58316400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:58291600-58315600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:58291600-58316200	Weak transcription	HUVEC	blood vessel
19	chr2:58291600-58317800	Weak transcription	HSMM	muscle
20	chr2:58291600-58317800	Weak transcription	NH-A	brain
21	chr2:58291600-58319000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:58291600-58321800	Weak transcription	Fetal Thymus	thymus
23	chr2:58291600-58325000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:58291800-58318800	Weak transcription	Osteobl	bone
25	chr2:58292000-58316200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:58292200-58316200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:58292200-58319000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:58292200-58319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:58294200-58320800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:58297000-58316800	Weak transcription	Ovary	ovary
31	chr2:58297600-58319000	Weak transcription	Primary T cells from cord blood	blood
32	chr2:58297800-58316400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:58297800-58317000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:58298000-58315800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:58298000-58317600	Weak transcription	Left Ventricle	heart
36	chr2:58298200-58313400	Weak transcription	Liver	Liver
37	chr2:58298200-58315600	Weak transcription	Adipose Nuclei	Adipose
38	chr2:58298200-58316200	Weak transcription	Fetal Lung	lung
39	chr2:58298200-58317000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:58301600-58319200	Weak transcription	Psoas Muscle	Psoas
41	chr2:58302400-58313400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:58302400-58315800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:58302400-58317200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:58302600-58312600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:58302600-58315200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:58302600-58315600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:58302600-58316200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:58302800-58314600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:58303000-58313600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:58303000-58315600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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