Variant report

Variant	nsv1005547
Chromosome Location	chr2:56751574-56887287
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:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:
2	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:
3	chr2:56880116..56881952-chr2:56892431..56894900,2	MCF-7	breast:
4	chr15:65596956..65597465-chr2:56867065..56867565,2	NB4	blood:
5	chr2:56773723..56776584-chr8:126325913..126327457,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC85A-1	chr2:56816620-56816630	XLOC_001482
2	lnc-CCDC85A-1	chr2:56815912-56815973	NONHSAT070827
3	lnc-CCDC85A-1	chr2:56815913-56815973	XLOC_001482
4	lnc-CCDC85A-1	chr2:56816619-56816630	NONHSAT070827

No data

Variant related genes	Relation type
ENSG00000200156	chromatin interactions
SEC23IP	miRNA target sites
NR2E1	miRNA target sites

Extended variants
information (count: 2726 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2726 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs987577	chr2:56751574-56751575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552359063	chr2:56751578-56751579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537003922	chr2:56751618-56751619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76643941	chr2:56751627-56751628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547623753	chr2:56751645-56751646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372518097	chr2:56751661-56751662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1030329	chr2:56751674-56751675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539526828	chr2:56751693-56751694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553073678	chr2:56751707-56751708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75040713	chr2:56751730-56751731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541615721	chr2:56751732-56751733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561384716	chr2:56751733-56751734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575095503	chr2:56751758-56751759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191192121	chr2:56751770-56751771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183495320	chr2:56751806-56751807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187334055	chr2:56751832-56751833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527438324	chr2:56751851-56751852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547721471	chr2:56751854-56751855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567556002	chr2:56751895-56751896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529864584	chr2:56751937-56751938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192282599	chr2:56751947-56751948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370415317	chr2:56751959-56751960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183157331	chr2:56752018-56752019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs987576	chr2:56752025-56752026	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs528224723	chr2:56752030-56752031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs987575	chr2:56752041-56752042	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568230225	chr2:56752055-56752056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111968643	chr2:56752073-56752074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187884138	chr2:56752089-56752090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11324978	chr2:56752140-56752141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397871748	chr2:56752147-56752148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192574298	chr2:56752151-56752152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570454616	chr2:56752206-56752207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539487627	chr2:56752210-56752211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538742456	chr2:56752230-56752231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12475721	chr2:56752250-56752251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566574310	chr2:56752273-56752274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534874715	chr2:56752289-56752290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572602562	chr2:56752415-56752416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555168782	chr2:56752493-56752494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574721256	chr2:56752505-56752506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543691099	chr2:56752516-56752517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184423839	chr2:56752531-56752532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576820934	chr2:56752551-56752552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55798719	chr2:56752556-56752557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559548298	chr2:56752559-56752560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534880134	chr2:56752570-56752571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141653147	chr2:56752588-56752589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13421608	chr2:56752619-56752620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561897240	chr2:56752627-56752628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56748800-56752600	Enhancers	Fetal Heart	heart
2	chr2:56749600-56751800	Enhancers	HSMM	muscle
3	chr2:56750600-56758200	Weak transcription	Psoas Muscle	Psoas
4	chr2:56750800-56752000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:56751600-56751800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:56758200-56758800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:56758200-56759200	Enhancers	Psoas Muscle	Psoas
8	chr2:56758800-56759400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:56758800-56759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:56758800-56759800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:56758800-56760000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:56758800-56762400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:56759000-56762200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:56759400-56759600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:56759600-56761000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:56759800-56760000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:56759800-56761200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:56760000-56761000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:56760400-56760600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:56760400-56762400	Enhancers	HSMM	muscle
21	chr2:56761000-56762000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:56761000-56762200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:56761200-56761400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:56761200-56761400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:56761200-56762000	Enhancers	HSMMtube	muscle
26	chr2:56761400-56761800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:56761800-56762200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:56767600-56768800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:56768200-56768600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:56768800-56771600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:56771600-56772000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:56777600-56778200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:56777600-56778200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:56789800-56790200	Enhancers	Fetal Heart	heart
35	chr2:56790200-56790600	Weak transcription	Fetal Heart	heart
36	chr2:56790600-56792600	Enhancers	Fetal Heart	heart
37	chr2:56792000-56793400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:56792200-56792600	Enhancers	HSMM	muscle
39	chr2:56792200-56793000	Enhancers	Adipose Nuclei	Adipose
40	chr2:56792600-56803000	Weak transcription	HSMM	muscle
41	chr2:56803000-56803800	Enhancers	Liver	Liver
42	chr2:56803000-56804600	ZNF genes & repeats	HSMM	muscle
43	chr2:56804600-56807000	Weak transcription	HSMM	muscle
44	chr2:56806800-56808200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:56807000-56807600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:56807000-56807600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:56807000-56807600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:56807000-56811400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:56807000-56811600	Enhancers	HSMM	muscle
50	chr2:56807200-56807800	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links