Variant report

Variant	esv3440763
Chromosome Location	chr1:178963578-178965557
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	chr1:178965316..178969355-chr1:178991737..178995719,5	K562	blood:

Variant related genes	Relation type
ENSG00000116199	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556932404	chr1:178964457-178964458	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs115677328	chr1:178964458-178964459	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs545917638	chr1:178964474-178964475	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs532466798	chr1:178964480-178964481	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs572673427	chr1:178964486-178964487	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs147457825	chr1:178964563-178964564	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs139868795	chr1:178964574-178964575	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs1012066	chr1:178964604-178964605	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543423205	chr1:178964609-178964610	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs559529683	chr1:178964673-178964674	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs12130087	chr1:178964686-178964687	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs563701756	chr1:178964710-178964711	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs532427134	chr1:178964753-178964754	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs552245563	chr1:178964772-178964773	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs559470034	chr1:178964773-178964774	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs192832763	chr1:178964777-178964778	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs74749723	chr1:178964784-178964785	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs568230662	chr1:178964801-178964802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537375626	chr1:178964837-178964838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533766706	chr1:178964841-178964842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113368130	chr1:178964849-178964850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531538907	chr1:178964859-178964860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs116875496	chr1:178964878-178964879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553081571	chr1:178964897-178964898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs373726138	chr1:178964898-178964899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548073521	chr1:178964917-178964918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561029876	chr1:178964937-178964938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368197444	chr1:178964953-178964954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555164585	chr1:178964971-178964972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112214840	chr1:178965345-178965346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112870652	chr1:178965350-178965351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563864928	chr1:178965397-178965398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576826805	chr1:178965405-178965406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545824137	chr1:178965413-178965414	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559406678	chr1:178965427-178965428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528582211	chr1:178965431-178965432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142892630	chr1:178965453-178965454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561924987	chr1:178965497-178965498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375546524	chr1:178965533-178965534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178964400-178964800	Bivalent Enhancer	HepG2	liver
2	chr1:178964600-178965000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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