Variant report

Variant	nsv535725
Chromosome Location	chr2:56761303-56916336
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:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:65596956..65597465-chr2:56867065..56867565,2	NB4	blood:
2	chr2:56880116..56881952-chr2:56892431..56894900,2	MCF-7	breast:
3	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:
4	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:
5	chr2:56880116..56881952-chr2:56892431..56894900,2	MCF-7	breast:
6	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	chr2:56815913-56815973	XLOC_001482
3	lnc-CCDC85A-1	chr2:56815912-56815973	NONHSAT070827
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: 2996 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2996 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577188075	chr2:56761334-56761335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187055919	chr2:56761344-56761345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72933916	chr2:56761347-56761348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145554847	chr2:56761367-56761368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78281063	chr2:56761368-56761369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116358318	chr2:56761399-56761400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182104501	chr2:56761404-56761405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144373065	chr2:56761405-56761406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571680895	chr2:56761435-56761436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10166050	chr2:56761480-56761481	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs72933918	chr2:56761519-56761520	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547456245	chr2:56761550-56761551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541490923	chr2:56761574-56761575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374925685	chr2:56761579-56761580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78440556	chr2:56761593-56761594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10166148	chr2:56761604-56761605	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs386646374	chr2:56761618-56761619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4671282	chr2:56761626-56761627	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs112794385	chr2:56761651-56761652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548231880	chr2:56761701-56761702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568092804	chr2:56761715-56761716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537135914	chr2:56761732-56761733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550444951	chr2:56761803-56761804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570228049	chr2:56761804-56761805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4672129	chr2:56761806-56761807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535218831	chr2:56761822-56761823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558791167	chr2:56761869-56761870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572426626	chr2:56761875-56761876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569129837	chr2:56761878-56761879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554525588	chr2:56761894-56761895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114681976	chr2:56761906-56761907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543893012	chr2:56761933-56761934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57548646	chr2:56761953-56761954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186754786	chr2:56761958-56761959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545698284	chr2:56761960-56761961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4672130	chr2:56761998-56761999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs528374568	chr2:56762022-56762023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190033263	chr2:56762029-56762030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4672131	chr2:56762041-56762042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530471193	chr2:56762060-56762061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182592172	chr2:56762072-56762073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570469538	chr2:56762111-56762112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72933922	chr2:56762123-56762124	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76859851	chr2:56762132-56762133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372994165	chr2:56762135-56762136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146948550	chr2:56762136-56762137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534975837	chr2:56762152-56762153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554887406	chr2:56762164-56762165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147987544	chr2:56762176-56762177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559623284	chr2:56762248-56762249	Enhancers	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:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56758800-56762400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:56759000-56762200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:56760400-56762400	Enhancers	HSMM	muscle
4	chr2:56761000-56762000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:56761000-56762200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:56761200-56761400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:56761200-56761400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:56761200-56762000	Enhancers	HSMMtube	muscle
9	chr2:56761400-56761800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:56761800-56762200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:56767600-56768800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:56768200-56768600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:56768800-56771600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:56771600-56772000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:56777600-56778200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:56777600-56778200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:56789800-56790200	Enhancers	Fetal Heart	heart
18	chr2:56790200-56790600	Weak transcription	Fetal Heart	heart
19	chr2:56790600-56792600	Enhancers	Fetal Heart	heart
20	chr2:56792000-56793400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:56792200-56792600	Enhancers	HSMM	muscle
22	chr2:56792200-56793000	Enhancers	Adipose Nuclei	Adipose
23	chr2:56792600-56803000	Weak transcription	HSMM	muscle
24	chr2:56803000-56803800	Enhancers	Liver	Liver
25	chr2:56803000-56804600	ZNF genes & repeats	HSMM	muscle
26	chr2:56804600-56807000	Weak transcription	HSMM	muscle
27	chr2:56806800-56808200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:56807000-56807600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:56807000-56807600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:56807000-56807600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:56807000-56811400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:56807000-56811600	Enhancers	HSMM	muscle
33	chr2:56807200-56807800	Enhancers	NHEK	skin
34	chr2:56807600-56808000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:56807600-56808000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:56807600-56809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:56807800-56809400	Weak transcription	NHEK	skin
38	chr2:56808000-56808200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:56808000-56808200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:56808200-56809400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:56808200-56809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:56808200-56811400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:56809400-56810000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:56809400-56810400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:56809400-56810600	Enhancers	NHEK	skin
46	chr2:56809400-56810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:56810000-56810200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:56810600-56816000	Weak transcription	NHEK	skin
49	chr2:56810800-56811400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:56810800-56815800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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