Variant report

Variant	esv3391964
Chromosome Location	chr1:196063229-196066527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75418097	chr1:196064026-196064027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573104985	chr1:196064040-196064041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111888727	chr1:196064041-196064042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79612948	chr1:196064053-196064054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79617277	chr1:196064054-196064055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183889792	chr1:196064063-196064064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547334290	chr1:196064093-196064094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565617119	chr1:196064120-196064121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188469693	chr1:196064135-196064136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569418516	chr1:196064184-196064185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34163247	chr1:196064217-196064218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72746198	chr1:196064232-196064233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs201704986	chr1:196064247-196064248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143326721	chr1:196064322-196064323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558894797	chr1:196064327-196064328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571065489	chr1:196064331-196064332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181022684	chr1:196064332-196064333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72746199	chr1:196064385-196064386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184299252	chr1:196064389-196064390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539827263	chr1:196064418-196064419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542268398	chr1:196064446-196064447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561386331	chr1:196064468-196064469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113795274	chr1:196064481-196064482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146700067	chr1:196064483-196064484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190815860	chr1:196064499-196064500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564420938	chr1:196064534-196064535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140273373	chr1:196064801-196064802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181920328	chr1:196064822-196064823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559238889	chr1:196064824-196064825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186126304	chr1:196064840-196064841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114565110	chr1:196064844-196064845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569592884	chr1:196064851-196064852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368107309	chr1:196064852-196064853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530414423	chr1:196064886-196064887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552293442	chr1:196064894-196064895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570428712	chr1:196064899-196064900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573231283	chr1:196064907-196064908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535264876	chr1:196064909-196064910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190496730	chr1:196065151-196065152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553567515	chr1:196065214-196065215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568774883	chr1:196065282-196065283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77060064	chr1:196065305-196065306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542871835	chr1:196065309-196065310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536117258	chr1:196065331-196065332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557364485	chr1:196065352-196065353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181346099	chr1:196065361-196065362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545856023	chr1:196065401-196065402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143461215	chr1:196065445-196065446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34163163	chr1:196065480-196065481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61822065	chr1:196065507-196065508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196064000-196064200	Enhancers	Fetal Stomach	stomach
2	chr1:196064200-196065600	Weak transcription	Fetal Stomach	stomach
3	chr1:196065600-196065800	Enhancers	Fetal Stomach	stomach
4	chr1:196065600-196067600	Enhancers	Fetal Lung	lung
5	chr1:196065800-196066600	Weak transcription	Fetal Stomach	stomach
6	chr1:196066000-196067400	Enhancers	Brain Hippocampus Middle	brain
7	chr1:196066000-196067600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:196066200-196068200	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:196066400-196067000	Enhancers	Brain Germinal Matrix	brain
10	chr1:196066400-196067200	Enhancers	Brain Angular Gyrus	brain
11	chr1:196066400-196067600	Enhancers	Brain Substantia Nigra	brain
12	chr1:196066400-196067800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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