Variant report

Variant	nsv817973
Chromosome Location	chr2:56743435-56817927
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:
2	chr2:56773723..56776584-chr8:126325913..126327457,2	MCF-7	breast:
3	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC85A-1	chr2:56750280-56750484	XLOC_001482
2	lnc-CCDC85A-1	chr2:56816619-56816630	NONHSAT070827
3	lnc-CCDC85A-1	chr2:56815912-56815973	NONHSAT070827
4	lnc-CCDC85A-1	chr2:56750279-56750484	NONHSAT070827
5	lnc-CCDC85A-1	chr2:56816620-56816630	XLOC_001482
6	lnc-CCDC85A-1	chr2:56815913-56815973	XLOC_001482

No data

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

Extended variants
information (count: 2372 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2372 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13396144	chr2:56743435-56743436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150359038	chr2:56743474-56743475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560410877	chr2:56743511-56743512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192030454	chr2:56743518-56743519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145008778	chr2:56743562-56743563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569171956	chr2:56743654-56743655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1978531	chr2:56743667-56743668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs376976476	chr2:56743690-56743691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184626690	chr2:56743710-56743711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200924809	chr2:56743751-56743752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1978530	chr2:56743753-56743754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571211279	chr2:56743763-56743764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374509588	chr2:56743764-56743765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149078153	chr2:56743841-56743842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553482756	chr2:56743904-56743905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190207776	chr2:56743917-56743918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535694057	chr2:56743932-56743933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543320167	chr2:56743950-56743951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547204764	chr2:56743976-56743977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376443828	chr2:56744019-56744020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566975668	chr2:56744020-56744021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575898088	chr2:56744049-56744050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370025453	chr2:56744079-56744080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544239839	chr2:56744081-56744082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558149216	chr2:56744098-56744099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563011909	chr2:56744106-56744107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578123123	chr2:56744113-56744114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146556399	chr2:56744179-56744180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182434475	chr2:56744181-56744182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139097950	chr2:56744183-56744184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79678676	chr2:56744186-56744187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187387674	chr2:56744225-56744226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562591786	chr2:56744239-56744240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189447424	chr2:56744242-56744243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551053149	chr2:56744254-56744255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180948191	chr2:56744280-56744281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527325412	chr2:56744281-56744282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547081886	chr2:56744329-56744330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549709102	chr2:56744387-56744388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567071837	chr2:56744394-56744395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535607552	chr2:56744400-56744401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11898737	chr2:56744469-56744470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11125633	chr2:56744481-56744482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs35320032	chr2:56744488-56744489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538291672	chr2:56744499-56744500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377030029	chr2:56744534-56744535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190188267	chr2:56744538-56744539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182718625	chr2:56744562-56744563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551543880	chr2:56744597-56744598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367915156	chr2:56744604-56744605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56743400-56745800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:56745800-56746000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:56746000-56746600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:56746600-56749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:56746800-56747800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:56747000-56747400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:56747000-56747400	Enhancers	HSMM	muscle
8	chr2:56747200-56748000	Enhancers	Adipose Nuclei	Adipose
9	chr2:56747400-56749600	Weak transcription	HSMM	muscle
10	chr2:56747400-56749800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56747800-56749800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:56748000-56750200	Weak transcription	Adipose Nuclei	Adipose
13	chr2:56748800-56752600	Enhancers	Fetal Heart	heart
14	chr2:56749600-56749800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:56749600-56749800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:56749600-56750600	Enhancers	Liver	Liver
17	chr2:56749600-56751800	Enhancers	HSMM	muscle
18	chr2:56749800-56750000	Enhancers	Right Ventricle	heart
19	chr2:56749800-56750000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr2:56749800-56750000	Active TSS	A549	lung
21	chr2:56749800-56750200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:56749800-56750200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:56749800-56750200	Enhancers	Fetal Muscle Leg	muscle
24	chr2:56749800-56750200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:56749800-56750400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:56749800-56750400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:56749800-56750400	Enhancers	Colon Smooth Muscle	Colon
28	chr2:56749800-56750400	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:56749800-56750400	Enhancers	Hela-S3	cervix
30	chr2:56749800-56750600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:56749800-56750600	Enhancers	Fetal Stomach	stomach
32	chr2:56749800-56750600	Enhancers	Psoas Muscle	Psoas
33	chr2:56749800-56750600	Enhancers	HSMMtube	muscle
34	chr2:56749800-56751400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:56749800-56751400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:56750000-56750400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:56750000-56750400	Flanking Active TSS	A549	lung
38	chr2:56750000-56750600	Enhancers	NHEK	skin
39	chr2:56750200-56750400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr2:56750200-56750600	Enhancers	Adipose Nuclei	Adipose
41	chr2:56750200-56750800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:56750200-56751000	Active TSS	Fetal Muscle Leg	muscle
43	chr2:56750400-56750600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:56750400-56750600	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr2:56750400-56750600	Enhancers	A549	lung
46	chr2:56750400-56751400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:56750600-56758200	Weak transcription	Psoas Muscle	Psoas
48	chr2:56750800-56752000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:56751600-56751800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:56758200-56758800	Enhancers	Skeletal Muscle Female	skeletal muscle

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