Variant report

Variant	nsv874174
Chromosome Location	chr2:56702495-56761998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:
2	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC85A-1	chr2:56750279-56750484	NONHSAT070827
2	lnc-CCDC85A-1	chr2:56750280-56750484	XLOC_001482

Variant related genes	Relation type
NR2E1	miRNA target sites

Extended variants
information (count: 1133 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1133 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10490404	chr2:56702495-56702496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184916201	chr2:56702506-56702507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115350230	chr2:56702556-56702557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550109750	chr2:56702575-56702576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537506109	chr2:56702589-56702590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11885874	chr2:56702629-56702630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375717799	chr2:56702639-56702640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552669461	chr2:56702716-56702717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35149126	chr2:56702733-56702734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577485385	chr2:56702765-56702766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546435746	chr2:56702821-56702822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188115961	chr2:56702858-56702859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2033015	chr2:56702871-56702872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542590147	chr2:56702894-56702895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181013672	chr2:56702897-56702898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535713069	chr2:56702906-56702907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530943481	chr2:56702909-56702910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185375811	chr2:56702913-56702914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564623774	chr2:56702927-56702928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532925299	chr2:56702942-56702943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546371915	chr2:56702949-56702950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34542564	chr2:56702952-56702953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566355517	chr2:56702960-56702961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574098441	chr2:56703009-56703010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10206333	chr2:56703017-56703018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549270466	chr2:56703018-56703019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568715536	chr2:56703150-56703151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368346612	chr2:56703230-56703231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34340641	chr2:56703254-56703255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191249259	chr2:56703274-56703275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115963986	chr2:56703300-56703301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57369443	chr2:56703314-56703315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397944884	chr2:56703323-56703324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577798145	chr2:56703327-56703328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183557623	chr2:56703340-56703341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553602122	chr2:56703352-56703353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544874853	chr2:56703393-56703394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13416950	chr2:56703394-56703395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562407824	chr2:56703399-56703400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375206349	chr2:56703403-56703404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575521368	chr2:56703448-56703449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578086508	chr2:56703471-56703472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533266814	chr2:56703484-56703485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544607289	chr2:56703548-56703549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75749183	chr2:56703612-56703613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533228826	chr2:56703613-56703614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546731736	chr2:56703626-56703627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540586806	chr2:56703654-56703655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369372484	chr2:56703694-56703695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559876222	chr2:56703705-56703706	Enhancers 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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56700600-56703000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:56700800-56703400	Enhancers	Adipose Nuclei	Adipose
3	chr2:56701000-56703000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:56701200-56702600	Enhancers	Hela-S3	cervix
5	chr2:56701200-56702800	Enhancers	Liver	Liver
6	chr2:56701200-56703000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:56701200-56703200	Enhancers	Fetal Heart	heart
8	chr2:56701400-56702800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:56701400-56704000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:56701600-56702600	Weak transcription	Fetal Intestine Large	intestine
11	chr2:56701600-56702800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:56701800-56702600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:56701800-56702600	Enhancers	HSMMtube	muscle
14	chr2:56702000-56702800	Enhancers	Psoas Muscle	Psoas
15	chr2:56702200-56703000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:56702200-56703600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:56702200-56703600	Weak transcription	Left Ventricle	heart
18	chr2:56702200-56703600	Weak transcription	Pancreas	Pancrea
19	chr2:56702200-56703800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:56702200-56703800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:56702400-56703600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:56702600-56702800	Enhancers	Fetal Intestine Large	intestine
23	chr2:56702800-56703600	Weak transcription	Psoas Muscle	Psoas
24	chr2:56702800-56704000	Weak transcription	Liver	Liver
25	chr2:56703000-56703400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:56703200-56703600	Weak transcription	Fetal Heart	heart
27	chr2:56703400-56704000	Weak transcription	Adipose Nuclei	Adipose
28	chr2:56703400-56704000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:56703600-56704000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:56703600-56704000	Enhancers	Fetal Heart	heart
31	chr2:56703600-56704000	Enhancers	Psoas Muscle	Psoas
32	chr2:56703600-56704200	Enhancers	Left Ventricle	heart
33	chr2:56703600-56704800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:56703800-56704000	Enhancers	Pancreas	Pancrea
35	chr2:56703800-56704200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:56703800-56704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:56703800-56704400	Enhancers	NHEK	skin
38	chr2:56704000-56704200	Enhancers	Adipose Nuclei	Adipose
39	chr2:56704000-56704400	Enhancers	Liver	Liver
40	chr2:56710000-56710600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:56710000-56710600	Enhancers	HSMM	muscle
42	chr2:56732600-56733400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:56742200-56742400	Bivalent Enhancer	Fetal Heart	heart
44	chr2:56742200-56742800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:56742200-56743400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:56742800-56743000	Bivalent Enhancer	Fetal Heart	heart
47	chr2:56743400-56745800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:56745800-56746000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:56746000-56746600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:56746600-56749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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