Variant report

Variant	esv1803451
Chromosome Location	chr1:152246726-152265157
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	chr1:152252432..152253990-chr17:56707679..56710622,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559287466	chr1:152250422-152250423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528354195	chr1:152250446-152250447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548520502	chr1:152250462-152250463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561644903	chr1:152250465-152250466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542344441	chr1:152250493-152250494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs555885249	chr1:152250495-152250496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs188347236	chr1:152250579-152250580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs192754694	chr1:152250585-152250586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570571987	chr1:152250622-152250623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73005434	chr1:152250624-152250625	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552697302	chr1:152250683-152250684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs566155556	chr1:152250701-152250702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs186940454	chr1:152250728-152250729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369065897	chr1:152250742-152250743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192366708	chr1:152250784-152250785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs58744331	chr1:152250786-152250787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs537091406	chr1:152250804-152250805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557174019	chr1:152250805-152250806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577221009	chr1:152250835-152250836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545990718	chr1:152250867-152250868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559465486	chr1:152250875-152250876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573100991	chr1:152250927-152250928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs542128118	chr1:152250948-152250949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs377684199	chr1:152250954-152250955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562003053	chr1:152250955-152250956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs576200098	chr1:152250966-152250967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530515623	chr1:152250993-152250994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566885464	chr1:152252439-152252440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535922713	chr1:152252462-152252463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549245016	chr1:152252494-152252495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533861634	chr1:152252556-152252557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190388332	chr1:152252689-152252690	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569015516	chr1:152252770-152252771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537687576	chr1:152252775-152252776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558030993	chr1:152252783-152252784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140016592	chr1:152252785-152252786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567846446	chr1:152252788-152252789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10888483	chr1:152252789-152252790	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs553317631	chr1:152252811-152252812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372443588	chr1:152252829-152252830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573323667	chr1:152252851-152252852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542293806	chr1:152252874-152252875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs35052127	chr1:152252887-152252888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562278008	chr1:152252916-152252917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575790316	chr1:152253002-152253003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544433005	chr1:152253003-152253004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112506316	chr1:152253008-152253009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564710878	chr1:152253126-152253127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550410762	chr1:152253145-152253146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571624445	chr1:152253148-152253149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152250400-152251000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr1:152263600-152264000	Weak transcription	Ovary	ovary
3	chr1:152264000-152264200	ZNF genes & repeats	Ovary	ovary
4	chr1:152264200-152275400	Weak transcription	Ovary	ovary

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