Variant report

Variant	esv5987
Chromosome Location	chr1:114039585-114046087
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	chr1:114038568..114040595-chr17:56708009..56710342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28661018	chr1:114039645-114039646	Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143426335	chr1:114039651-114039652	Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537678632	chr1:114039659-114039660	Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554339619	chr1:114039692-114039693	Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568385582	chr1:114039708-114039709	Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12048164	chr1:114039713-114039714	Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs377673826	chr1:114039748-114039749	Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533854647	chr1:114039786-114039787	Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7552618	chr1:114039800-114039801	Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548628039	chr1:114039831-114039832	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562121188	chr1:114039855-114039856	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576786318	chr1:114039891-114039892	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140424532	chr1:114039903-114039904	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556330827	chr1:114039906-114039907	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576181249	chr1:114039925-114039926	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566115345	chr1:114039949-114039950	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544864902	chr1:114039994-114039995	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550061441	chr1:114039996-114039997	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561312051	chr1:114039998-114039999	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574935534	chr1:114040004-114040005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28637898	chr1:114040009-114040010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540571618	chr1:114040010-114040011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs28863878	chr1:114040078-114040079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532386602	chr1:114040089-114040090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552131068	chr1:114040093-114040094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61819366	chr1:114040301-114040302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs202186894	chr1:114040352-114040353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200290416	chr1:114040355-114040356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201249588	chr1:114040371-114040372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199556681	chr1:114040376-114040377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28857808	chr1:114040378-114040379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554491623	chr1:114040419-114040420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529989152	chr1:114040521-114040522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7544534	chr1:114041259-114041260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199692529	chr1:114041946-114041947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200799446	chr1:114041979-114041980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201525832	chr1:114041999-114042000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199597804	chr1:114042024-114042025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200710502	chr1:114042027-114042028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201508912	chr1:114042045-114042046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199954988	chr1:114042274-114042275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200274636	chr1:114042419-114042420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562689926	chr1:114043118-114043119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201689668	chr1:114044102-114044103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61819368	chr1:114045389-114045390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371558885	chr1:114045425-114045426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374499232	chr1:114045500-114045501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368615778	chr1:114045607-114045608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148520106	chr1:114045766-114045767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199791669	chr1:114045832-114045833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114031800-114039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:114031800-114039600	Weak transcription	Pancreas	Pancrea
3	chr1:114034200-114053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:114039000-114039800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:114039400-114040000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:114039400-114040000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:114039600-114039800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:114039600-114039800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:114039600-114039800	ZNF genes & repeats	Pancreas	Pancrea
10	chr1:114039600-114040000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:114039600-114040000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:114039600-114040000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:114039800-114049400	Weak transcription	Pancreas	Pancrea
14	chr1:114039800-114050400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:114045600-114048400	Weak transcription	H9 Cell Line	embryonic stem cell

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