Variant report

Variant	nsv582056
Chromosome Location	chr2:56785785-56822558
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:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:
2	chr2:56812542..56814077-chr2:56817593..56819138,2	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	chr2:56816619-56816630	NONHSAT070827
4	lnc-CCDC85A-1	chr2:56815913-56815973	XLOC_001482

No data

Variant related genes	Relation type
SEC23IP	miRNA target sites
NR2E1	miRNA target sites

Extended variants
information (count: 1440 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1440 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529215407	chr2:56789814-56789815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531328954	chr2:56789819-56789820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3070931	chr2:56789883-56789884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117903649	chr2:56789891-56789892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2033018	chr2:56789900-56789901	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568961768	chr2:56789956-56789957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537999878	chr2:56790121-56790122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533851163	chr2:56790137-56790138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554091366	chr2:56790140-56790141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551538310	chr2:56790193-56790194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35306373	chr2:56790194-56790195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2033017	chr2:56790233-56790234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534013006	chr2:56790236-56790237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192953119	chr2:56790239-56790240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539680944	chr2:56790253-56790254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183174914	chr2:56790349-56790350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187809195	chr2:56790358-56790359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576198803	chr2:56790418-56790419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544807872	chr2:56790471-56790472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564679349	chr2:56790480-56790481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578087102	chr2:56790481-56790482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540835201	chr2:56790548-56790549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560373723	chr2:56790558-56790559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529546519	chr2:56790567-56790568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191162477	chr2:56790574-56790575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536556365	chr2:56790638-56790639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562582822	chr2:56790667-56790668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183635857	chr2:56790682-56790683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189412236	chr2:56790692-56790693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571729726	chr2:56790702-56790703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6714842	chr2:56790738-56790739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547619331	chr2:56790806-56790807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567565522	chr2:56790814-56790815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138667417	chr2:56790857-56790858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543345147	chr2:56790918-56790919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114083136	chr2:56790934-56790935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556177885	chr2:56790974-56790975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192896107	chr2:56790980-56790981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538649402	chr2:56791013-56791014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6715183	chr2:56791028-56791029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572466952	chr2:56791033-56791034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140054028	chr2:56791036-56791037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541486845	chr2:56791041-56791042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539138940	chr2:56791099-56791100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557627131	chr2:56791110-56791111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540423078	chr2:56791116-56791117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560361486	chr2:56791158-56791159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573985151	chr2:56791178-56791179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577767390	chr2:56791180-56791181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542942246	chr2:56791245-56791246	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56789800-56790200	Enhancers	Fetal Heart	heart
2	chr2:56790200-56790600	Weak transcription	Fetal Heart	heart
3	chr2:56790600-56792600	Enhancers	Fetal Heart	heart
4	chr2:56792000-56793400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:56792200-56792600	Enhancers	HSMM	muscle
6	chr2:56792200-56793000	Enhancers	Adipose Nuclei	Adipose
7	chr2:56792600-56803000	Weak transcription	HSMM	muscle
8	chr2:56803000-56803800	Enhancers	Liver	Liver
9	chr2:56803000-56804600	ZNF genes & repeats	HSMM	muscle
10	chr2:56804600-56807000	Weak transcription	HSMM	muscle
11	chr2:56806800-56808200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:56807000-56807600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:56807000-56807600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:56807000-56807600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:56807000-56811400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:56807000-56811600	Enhancers	HSMM	muscle
17	chr2:56807200-56807800	Enhancers	NHEK	skin
18	chr2:56807600-56808000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:56807600-56808000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:56807600-56809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:56807800-56809400	Weak transcription	NHEK	skin
22	chr2:56808000-56808200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:56808000-56808200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:56808200-56809400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:56808200-56809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:56808200-56811400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:56809400-56810000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:56809400-56810400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:56809400-56810600	Enhancers	NHEK	skin
30	chr2:56809400-56810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:56810000-56810200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:56810600-56816000	Weak transcription	NHEK	skin
33	chr2:56810800-56811400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:56810800-56815800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:56811400-56811800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:56811400-56814400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:56811600-56814200	Weak transcription	HSMM	muscle
38	chr2:56811800-56814200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:56814200-56814400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:56814200-56814800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:56814200-56815200	Enhancers	HSMM	muscle
42	chr2:56814400-56814800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:56814400-56815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:56814800-56816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:56814800-56818000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:56815400-56816200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:56815600-56816000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:56815600-56816200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:56815600-56816200	Enhancers	HUVEC	blood vessel
50	chr2:56815800-56816200	Enhancers	HUES6 Cell Line	embryonic stem cell

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