Variant report

Variant	esv3457761
Chromosome Location	chr2:56071024-56071471
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	chr2:56066504..56070179-chr2:56070783..56074906,3	MCF-7	breast:
2	chr2:56070321..56072197-chr2:56112589..56114898,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7571341	chr2:56071062-56071063	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538852764	chr2:56071064-56071065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs114755104	chr2:56071070-56071071	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs201407787	chr2:56071109-56071110	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs77291592	chr2:56071112-56071113	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79118793	chr2:56071120-56071121	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs200462139	chr2:56071121-56071122	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188641622	chr2:56071151-56071152	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs192808576	chr2:56071152-56071153	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs142649963	chr2:56071251-56071252	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs146895966	chr2:56071255-56071256	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs138899836	chr2:56071261-56071262	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577109384	chr2:56071292-56071293	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546060686	chr2:56071334-56071335	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184912380	chr2:56071346-56071347	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373291096	chr2:56071362-56071363	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527808179	chr2:56071368-56071369	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188535507	chr2:56071377-56071378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561089759	chr2:56071389-56071390	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530048314	chr2:56071392-56071393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs550016827	chr2:56071417-56071418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570063545	chr2:56071446-56071447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532560901	chr2:56071458-56071459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576036543	chr2:56071471-56071472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56066800-56082600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:56068600-56071400	Flanking Active TSS	A549	lung
3	chr2:56068600-56071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:56068800-56071200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:56068800-56071400	Enhancers	Fetal Intestine Small	intestine
6	chr2:56068800-56072000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:56068800-56072000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:56068800-56072000	Enhancers	Osteobl	bone
9	chr2:56069000-56071200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:56069000-56071400	Enhancers	Fetal Intestine Large	intestine
11	chr2:56069000-56071600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:56069000-56071600	Enhancers	NHDF-Ad	bronchial
13	chr2:56069000-56071600	Enhancers	NHLF	lung
14	chr2:56069000-56072200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:56069200-56071400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:56069200-56071400	Enhancers	HSMM	muscle
17	chr2:56069200-56071600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:56069200-56071600	Enhancers	NHEK	skin
19	chr2:56069200-56071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:56069800-56071400	Enhancers	Fetal Lung	lung
21	chr2:56069800-56071400	Enhancers	NH-A	brain
22	chr2:56070000-56071200	Enhancers	HSMMtube	muscle
23	chr2:56070200-56071200	Flanking Active TSS	Hela-S3	cervix
24	chr2:56070200-56071400	Enhancers	HMEC	breast
25	chr2:56070200-56073000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:56070400-56071600	Enhancers	Stomach Mucosa	stomach
27	chr2:56070400-56072000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:56070600-56071200	Enhancers	Adipose Nuclei	Adipose
29	chr2:56070600-56071400	Enhancers	Liver	Liver
30	chr2:56070600-56073000	Weak transcription	Pancreas	Pancrea
31	chr2:56070600-56075400	Weak transcription	HUVEC	blood vessel
32	chr2:56070600-56078400	Weak transcription	Ovary	ovary
33	chr2:56070800-56071400	Enhancers	Duodenum Mucosa	Duodenum
34	chr2:56070800-56071800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:56071200-56071600	Enhancers	Hela-S3	cervix
36	chr2:56071200-56072000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:56071400-56072400	Enhancers	A549	lung
38	chr2:56071400-56084000	Weak transcription	HSMM	muscle

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