Variant report

Variant	esv3398468
Chromosome Location	chr1:195801129-195803077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:195801949..195804625-chr1:195806180..195808826,3	K562	blood:
2	chr1:195799469..195802438-chr1:195824190..195826627,2	K562	blood:
3	chr1:195803018..195804625-chr1:195806055..195808518,2	K562	blood:
4	chr1:195797258..195800617-chr1:195801133..195805279,5	K562	blood:
5	chr1:195689328..195691093-chr1:195801582..195803089,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528261549	chr1:195801137-195801138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540028865	chr1:195801162-195801163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138554702	chr1:195801169-195801170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529163041	chr1:195801210-195801211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80277207	chr1:195801230-195801231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541973879	chr1:195801232-195801233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568469152	chr1:195801263-195801264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570743324	chr1:195801291-195801292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561957857	chr1:195801293-195801294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532776304	chr1:195801344-195801345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4489536	chr1:195801361-195801362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538223290	chr1:195801387-195801388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4601567	chr1:195801425-195801426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142757075	chr1:195801432-195801433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572074739	chr1:195801526-195801527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9701139	chr1:195801607-195801608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182480170	chr1:195801626-195801627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538537251	chr1:195801670-195801671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61310168	chr1:195801707-195801708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186760347	chr1:195801724-195801725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534984749	chr1:195801727-195801728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554165992	chr1:195801752-195801753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62635828	chr1:195801760-195801761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201187448	chr1:195801766-195801767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61820583	chr1:195801768-195801769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61820584	chr1:195801780-195801781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369613332	chr1:195801787-195801788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74637935	chr1:195801792-195801793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573504690	chr1:195801814-195801815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544063550	chr1:195801848-195801849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562460335	chr1:195801851-195801852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532741117	chr1:195801852-195801853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550941002	chr1:195801931-195801932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202179003	chr1:195801940-195801941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543350351	chr1:195801978-195801979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113380332	chr1:195802098-195802099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111692158	chr1:195802138-195802139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12031883	chr1:195802193-195802194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527386410	chr1:195802196-195802197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12031884	chr1:195802198-195802199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373762015	chr1:195802201-195802202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192316814	chr1:195802220-195802221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185837928	chr1:195802225-195802226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28705961	chr1:195802233-195802234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12239407	chr1:195802238-195802239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62635829	chr1:195802241-195802242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62635830	chr1:195802242-195802243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62635831	chr1:195802245-195802246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10921931	chr1:195802260-195802261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112651853	chr1:195802262-195802263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195800400-195801200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:195800400-195801200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:195800400-195801200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:195800400-195801200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:195800400-195801200	Enhancers	K562	blood
6	chr1:195800600-195801200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:195801200-195801800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:195801200-195804200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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