Variant report

Variant	esv2756921
Chromosome Location	chr2:56706672-56811290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:
2	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:
3	chr2:56773723..56776584-chr8:126325913..126327457,2	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: 2239 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2239 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189993992	chr2:56710012-56710013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542883066	chr2:56710013-56710014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549649854	chr2:56710015-56710016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181502500	chr2:56710039-56710040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186171626	chr2:56710079-56710080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550186831	chr2:56710121-56710122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551375720	chr2:56710128-56710129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569479972	chr2:56710149-56710150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190837024	chr2:56710153-56710154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538398602	chr2:56710160-56710161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547182411	chr2:56710165-56710166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6738570	chr2:56710188-56710189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138732504	chr2:56710192-56710193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538622177	chr2:56710234-56710235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549617876	chr2:56710264-56710265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576849870	chr2:56710365-56710366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6753780	chr2:56710407-56710408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557722540	chr2:56710428-56710429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547101773	chr2:56710432-56710433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577626534	chr2:56710449-56710450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534252806	chr2:56710460-56710461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181944921	chr2:56710474-56710475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573748426	chr2:56710486-56710487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149341304	chr2:56710536-56710537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567001510	chr2:56710550-56710551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562703754	chr2:56710558-56710559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576399273	chr2:56710559-56710560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545360279	chr2:56710573-56710574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564825274	chr2:56710585-56710586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527289249	chr2:56710586-56710587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2113864	chr2:56732604-56732605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558219961	chr2:56732619-56732620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193204170	chr2:56732621-56732622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138888375	chr2:56732658-56732659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529379433	chr2:56732675-56732676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10193624	chr2:56732701-56732702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34349569	chr2:56732721-56732722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6756460	chr2:56732729-56732730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538106380	chr2:56732741-56732742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558070332	chr2:56732797-56732798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571595426	chr2:56732805-56732806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558051081	chr2:56732844-56732845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533770599	chr2:56732871-56732872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149382409	chr2:56732964-56732965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527534551	chr2:56732967-56732968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10193747	chr2:56732978-56732979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10490406	chr2:56732979-56732980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555505876	chr2:56733019-56733020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185458803	chr2:56733025-56733026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544430404	chr2:56733039-56733040	Enhancers	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56710000-56710600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:56710000-56710600	Enhancers	HSMM	muscle
3	chr2:56732600-56733400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:56742200-56742400	Bivalent Enhancer	Fetal Heart	heart
5	chr2:56742200-56742800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:56742200-56743400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:56742800-56743000	Bivalent Enhancer	Fetal Heart	heart
8	chr2:56743400-56745800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:56745800-56746000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:56746000-56746600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:56746600-56749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:56746800-56747800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:56747000-56747400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:56747000-56747400	Enhancers	HSMM	muscle
15	chr2:56747200-56748000	Enhancers	Adipose Nuclei	Adipose
16	chr2:56747400-56749600	Weak transcription	HSMM	muscle
17	chr2:56747400-56749800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:56747800-56749800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:56748000-56750200	Weak transcription	Adipose Nuclei	Adipose
20	chr2:56748800-56752600	Enhancers	Fetal Heart	heart
21	chr2:56749600-56749800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:56749600-56749800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:56749600-56750600	Enhancers	Liver	Liver
24	chr2:56749600-56751800	Enhancers	HSMM	muscle
25	chr2:56749800-56750000	Enhancers	Right Ventricle	heart
26	chr2:56749800-56750000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr2:56749800-56750000	Active TSS	A549	lung
28	chr2:56749800-56750200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:56749800-56750200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:56749800-56750200	Enhancers	Fetal Muscle Leg	muscle
31	chr2:56749800-56750200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:56749800-56750400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:56749800-56750400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:56749800-56750400	Enhancers	Colon Smooth Muscle	Colon
35	chr2:56749800-56750400	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:56749800-56750400	Enhancers	Hela-S3	cervix
37	chr2:56749800-56750600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:56749800-56750600	Enhancers	Fetal Stomach	stomach
39	chr2:56749800-56750600	Enhancers	Psoas Muscle	Psoas
40	chr2:56749800-56750600	Enhancers	HSMMtube	muscle
41	chr2:56749800-56751400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:56749800-56751400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:56750000-56750400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:56750000-56750400	Flanking Active TSS	A549	lung
45	chr2:56750000-56750600	Enhancers	NHEK	skin
46	chr2:56750200-56750400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr2:56750200-56750600	Enhancers	Adipose Nuclei	Adipose
48	chr2:56750200-56750800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:56750200-56751000	Active TSS	Fetal Muscle Leg	muscle
50	chr2:56750400-56750600	Enhancers	Skeletal Muscle Male	skeletal muscle

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